ClinVar Miner

List of variants in gene TIMM50 studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala) rs776019250
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter) rs35135520
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112

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