ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant distal myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001458.4(FLNC):c.1199T>C (p.Ile400Thr) rs1562992604
NM_001458.4(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128
NM_001458.4(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_007078.3(LDB3):c.690-4739G>A rs376489385
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415
NM_024919.5(FRMD1):c.508G>T (p.Val170Leu) rs199740559
NM_183357.2(ADCY5):c.1368G>A (p.Met456Ile) rs1286137967

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