ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by New York Genome Center

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met) rs186992412 0.00129
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn) rs140655598 0.00039
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys) rs754345718 0.00030
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_001177643.3(DAG1):c.-117+1G>T rs992005563 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn) rs139154209 0.00006
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu) rs994374423 0.00004
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala) rs201310633 0.00004
NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser) rs956984428 0.00004
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly) rs879087699 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00002
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln) rs199704873 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.4880G>A (p.Arg1627Gln) rs763053961 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys) rs753367343 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu) rs1302865780 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42714T>A (p.His14238Gln) rs1438979717 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly) rs773021696 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) rs397515422 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_032608.7(MYO18B):c.7157G>T (p.Cys2386Phe) rs754267663 0.00001
NM_182961.4(SYNE1):c.25015G>T (p.Gly8339Cys) rs747768163 0.00001
GRCh38/hg38 8q23.1(chr8:105628485-105634938)
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) rs1008860336
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)
NM_001267550.2(TTN):c.19993+6C>T
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg)
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.52405+4A>G
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)
NM_001267550.2(TTN):c.64880G>T (p.Gly21627Val) rs2154180072
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter) rs2047743679
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)
NM_001267550.2(TTN):c.81905A>G (p.Lys27302Arg) rs2154162241
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
Single allele

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