ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Athena Diagnostics Inc

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763

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