ClinVar Miner

List of variants reported as pathogenic for Gamstorp-Wohlfart syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493 0.00003
NM_005340.7(HINT1):c.283C>T (p.Arg95Ter) rs145306016 0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532 0.00002
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489 0.00001
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp) rs768248277 0.00001
NC_000005.10:g.(?_131159273)_(131165358_?)del
NC_000005.10:g.(?_131159427)_(131165225_?)del
NC_000005.9:g.(?_130495140)_(130500898_?)del
NC_000005.9:g.(?_130495140)_130500898del
NC_000005.9:g.(?_130500743)_(130501051_?)del
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.157del (p.Leu53fs) rs1289497047
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.190del (p.Ser64fs)
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.292del (p.Val97_Val98insTer) rs2149651165
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005340.7(HINT1):c.99del (p.Phe33fs) rs2149654884

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