ClinVar Miner

List of variants reported as pathogenic for Warburg micro syndrome 1

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152

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