ClinVar Miner

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

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
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_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
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_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
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_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser) rs547379014 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
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_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
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_016213.5(TRIP4):c.1465C>T (p.Arg489Cys) rs764341782 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 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_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 0.00001
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) rs371388948 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 0.00001
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys) rs769574222 0.00001
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) rs758491978 0.00001
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr) rs1276417965 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_013403.3(STRN4):c.282+55T>C rs2054592600 0.00001
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) rs762546512 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_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) rs146522136
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) rs1380745222
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) rs1012171328
NM_000426.4(LAMA2):c.4717+5G>A rs776050258
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) rs1779325827
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) rs1785788819
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) rs1393350402
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) rs1023922833
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) rs1949619639
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys) rs1946684104
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) rs2077848878
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
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.6283-28A>G
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
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.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_005198.5(CHKB):c.1064T>C (p.Leu355Pro) rs2070626510
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.703G>A (p.Gly235Arg) rs1658069732
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys) rs367734644
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
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_170707.4(LMNA):c.113T>A (p.Leu38His) rs1558116084
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309

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