ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Baylor Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)
NM_001145809.2(MYH14):c.5469+13del
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.11311+4835T>A
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile)
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) rs1560628327
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu) rs538959125
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His)
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn)
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln)
NM_001267550.2(TTN):c.39044-9T>A rs184888200
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr)
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn) rs769967388
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp)
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly)
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)
NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr)
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556
NM_001267550.2(TTN):c.53002+10G>A rs370352450
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg)
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg)
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) rs1559507734
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg)
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala)
NM_001289808.2(CRYAB):c.519del (p.Lys174fs)
NM_001458.4(FLNC):c.479C>T (p.Thr160Met) rs1357772572
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.640G>T (p.Asp214Tyr)
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)
NM_022173.4(TIA1):c.775C>A (p.His259Asn)
NM_133378.4(TTN):c.10361-1G>A rs869312099

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