ClinVar Miner

List of variants studied for Gamstorp-Wohlfart syndrome

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
NC_000005.9:g.(?_130494966)_(130501051_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000005.9:g.(?_130495120)_(130500918_?)del
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) rs762701283
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
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.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.217-3C>T
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
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.277G>T (p.Gly93Cys)
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493
NM_005340.7(HINT1):c.289G>A (p.Val97Met) rs1554088064
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396

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