ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) rs121909330
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_170707.4(LMNA):c.810+1G>C rs267607632
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
NM_213599.2(ANO5):c.[155A>G];[191dupA]

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