ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive distal myopathy by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
NM_005476.7(GNE):c.-42-3C>T
NM_005476.7(GNE):c.1081T>C (p.Tyr361His) rs1192630467
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408
NM_005476.7(GNE):c.1816+4G>C rs760700813
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394
NM_005476.7(GNE):c.1933+3G>A
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032

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