ClinVar Miner

List of variants studied for Gamstorp-Wohlfart syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532

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