ClinVar Miner

List of variants studied for congenital muscular dystrophy by Baylor Genetics

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 551
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_002206.3(ITGA7):c.2958+16G>A rs200586885 0.00207
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val) rs201469044 0.00025
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339 0.00023
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) rs200485048 0.00019
NM_032237.5(POMK):c.44G>A (p.Arg15Gln) rs377725187 0.00019
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val) rs200267194 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser) rs547379014 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln) rs376931365 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys) rs764341782 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter) rs868019991 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2323-1G>T rs1278823424 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) rs371388948 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys) rs769574222 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) rs758491978 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 0.00001
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr) rs1276417965 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr) rs2077865867 0.00001
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp) rs1031520613 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_002206.3(ITGA7):c.998+18C>T rs370001763 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) rs779425587 0.00001
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg) rs1766321428 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_005198.5(CHKB):c.1031+3G>C rs751176079 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013403.3(STRN4):c.282+55T>C rs2054592600 0.00001
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) rs762546512 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys) rs747691921 0.00001
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) rs746916767 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_000426.4(LAMA2):c.112+1G>T
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
NM_000426.4(LAMA2):c.113-2A>C
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1307-2A>G
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) rs146522136
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) rs1380745222
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) rs1012171328
NM_000426.4(LAMA2):c.1782_1782+1delinsT
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter) rs1786070922
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
NM_000426.4(LAMA2):c.2537+1G>C
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
NM_000426.4(LAMA2):c.283+2T>A
NM_000426.4(LAMA2):c.2856+1G>C
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) rs1774316033
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) rs2114493974
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3735+1G>A
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) rs750220830
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4717+5G>A rs776050258
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) rs1779325827
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
NM_000426.4(LAMA2):c.7749+1G>C
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) rs2114849148
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7899-1G>C
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8075+2dup rs2114859967
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) rs1784912657
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.8244+2dup rs1554310330
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.8245-2A>G rs914395925
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) rs1785788819
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
NM_000426.4(LAMA2):c.8849_8857+1del
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) rs1393350402
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) rs1023922833
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) rs2114967814
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1272+2dup
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) rs1949619639
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.230-2A>G
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys) rs1946684104
NM_001077365.2(POMT1):c.583del (p.Val195fs)
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
NM_001077365.2(POMT1):c.699+14_699+17dup
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) rs2077848878
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_002206.3(ITGA7):c.1114C>T (p.Arg372Trp) rs752464052
NM_002206.3(ITGA7):c.605C>T (p.Ala202Val) rs1873873897
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6283-28A>G
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) rs2076974450
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=) rs1767127938
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu) rs766324183
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro) rs2070626510
NM_007171.4(POMT1):c.429_430del
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1183+1G>A
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
NM_013382.7(POMT2):c.163dup (p.Val55fs)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1786-2A>T
NM_013382.7(POMT2):c.188del (p.Leu63fs)
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.248+1G>T
NM_013382.7(POMT2):c.253del (p.Asp85fs)
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu) rs1897636551
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser) rs2075263105
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1287dup
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1414-1G>T
NM_017739.4(POMGNT1):c.1414-2A>C
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
NM_017739.4(POMGNT1):c.1605-2_1606del
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1896-1G>C rs386834025
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
NM_017739.4(POMGNT1):c.236-1_236del
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) rs749603354
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) rs1658069732
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
NM_017739.4(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.4(POMGNT1):c.879+2T>G
NM_017739.4(POMGNT1):c.879+5G>A rs386834038
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys) rs367734644
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.511_523del (p.Leu171fs) rs1314297056
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys) rs2089830692
NM_032806.6(POMGNT2):c.891C>A (p.Asn297Lys) rs1269685677
NM_032806.6(POMGNT2):c.931G>A (p.Ala311Thr) rs2089840767
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro) rs756533976
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser) rs768675700
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.763-1G>A rs780433836
NM_170707.4(LMNA):c.113T>A (p.Leu38His) rs1558116084
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.