ClinVar Miner

List of variants reported as pathogenic for congenital muscular dystrophy by Baylor Genetics

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
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_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 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_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00006
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 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_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_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.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
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.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 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.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 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.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 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.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 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.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 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.841C>T (p.Gln281Ter) rs119462981 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_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 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_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 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.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.931C>T (p.Arg311Ter) rs386834039 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.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-2A>G
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) rs1774316033
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
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.4198C>T (p.Arg1400Ter) rs775112258
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.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
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.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
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_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
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.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_007171.4(POMT1):c.429_430del
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
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.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) rs749603354
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
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.217C>T (p.Gln73Ter)
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
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_152490.5(B3GALNT2):c.763-1G>A rs780433836
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

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