ClinVar Miner

List of variants reported as pathogenic for Warburg micro syndrome 1

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP
NM_001172435.1(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_001172435.1(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_001172435.1(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_001172435.1(RAB3GAP1):c.2037_2055dup (p.Phe686Alafs) rs587777153
NM_001172435.1(RAB3GAP1):c.429_430insT (p.Lys144Terfs) rs1553444644
NM_012233.2(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185
NM_012233.2(RAB3GAP1):c.1237-2A>G
NM_012233.2(RAB3GAP1):c.1310C>G (p.Ser437Ter)
NM_012233.2(RAB3GAP1):c.1908C>G (p.Tyr636Ter)
NM_012233.2(RAB3GAP1):c.2491G>T (p.Glu831Ter)
NM_012233.2(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.2(RAB3GAP1):c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) rs730882184
NM_012233.2(RAB3GAP1):c.2801delC (p.Pro934Leufs) rs730882182
NM_012233.2(RAB3GAP1):c.2865_2866insTTCT (p.Pro956PhefsTer15) rs1553450718
NM_012233.2(RAB3GAP1):c.469G>T (p.Gly157Ter)
NM_012233.2(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.2(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.2(RAB3GAP1):c.630_631insC (p.Ile211Hisfs) rs1064794536
NM_012233.2(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.2(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.2(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.2(RAB3GAP1):c.899+1G>A rs587777152

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