ClinVar Miner

List of variants studied for Warburg micro syndrome by OMIM

Included ClinVar conditions (6):
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Total variants: 25
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HGVS dbSNP
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
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.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
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
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_021252.5(RAB18):c.274_276AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_144628.2(TBC1D20):c.71-?_*1+?del
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter) rs587777157
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter) rs587777158
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs) rs587777159
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) rs587777160
RAB18, EX2DEL

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