ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=) rs1047569721 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 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_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter) rs1553420848 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter) rs887577241 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_014254.3(RXYLT1):c.325+1G>T rs1592838547 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_152490.5(B3GALNT2):c.842-1G>A rs764784497 0.00001
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
NC_000006.11:g.129802434_(129802585_129807618)del
NC_000009.11:g.(134388719_134390812)_(134399194_?)del
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.292C>A (p.Arg98Ser)
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.85dup (p.His29fs)
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn) rs765935351
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln) rs2141164715
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.811+1G>A
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000426.4(LAMA2):c.164del (p.Asn55fs)
NM_000426.4(LAMA2):c.1884+2T>C rs968447029
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.4311+1G>A
NM_000426.4(LAMA2):c.4379del (p.Lys1460fs)
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs) rs2114839550
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) rs2132800044
NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs) rs2152940961
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001164508.2(NEB):c.1035+1G>A
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
NM_001164508.2(NEB):c.14827-2A>C
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter) rs1559952676
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.21141del (p.Ile7047fs) rs2093339890
NM_001164508.2(NEB):c.2310+5G>A
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) rs2152822941
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter) rs2154198430
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)
NM_001267550.2(TTN):c.8255_8257delinsGG (p.Lys2752fs)
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_004130.4(GYG1):c.7+2T>C
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.7668+1G>A
NM_005476.7(GNE):c.1132G>C (p.Asp378His) rs199877522
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_014049.5(ACAD9):c.1029+1dup rs2107657797
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser) rs777282696
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.634-1G>A
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_020451.3(SELENON):c.1384T>C
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) rs1174570887
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_031229.4(RBCK1):c.582+1G>A rs1017046170
NM_032237.5(POMK):c.386_387del (p.Leu129fs) rs2130626422
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter) rs2086610889

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