ClinVar Miner

List of variants reported as benign for Gamstorp-Wohlfart syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.57T>C (p.Phe19=) rs4696 0.12656
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00394
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223 0.00191
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567 0.00130
NM_005340.7(HINT1):c.159G>A (p.Leu53=) rs199716973 0.00010

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