ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222 0.00034
NM_005340.7(HINT1):c.33T>G (p.Ala11=) rs752008656 0.00005
NM_005340.7(HINT1):c.112-13C>T rs751481922 0.00001
NM_005340.7(HINT1):c.112-29ATTT[3] rs1064794666
NM_005340.7(HINT1):c.112-29ATTT[5] rs1064794666
NM_005340.7(HINT1):c.117T>A (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.192T>C (p.Ser64=)
NM_005340.7(HINT1):c.216+9A>C rs751105694
NM_005340.7(HINT1):c.276G>A (p.Lys92=)
NM_005340.7(HINT1):c.30C>A (p.Val10=)
NM_005340.7(HINT1):c.342T>C (p.His114=)
NM_005340.7(HINT1):c.36G>A (p.Arg12=)
NM_005340.7(HINT1):c.378T>A (p.Gly126=)
NM_005340.7(HINT1):c.63G>A (p.Lys21=) rs2149654918
NM_005340.7(HINT1):c.84A>G (p.Pro28=)

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