ClinVar Miner

List of variants in gene RAB42 reported by Ambry Genetics

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001193532.3(RAB42):c.321A>C (p.Gln107His) rs553426672 0.00008
NM_001193532.3(RAB42):c.617C>A (p.Ser206Tyr) rs772926695 0.00003
NM_001193532.3(RAB42):c.469G>C (p.Glu157Gln) rs1376348491 0.00002
NM_001193532.3(RAB42):c.257G>A (p.Arg86Gln) rs1456585787 0.00001
NM_001193532.3(RAB42):c.67A>C (p.Thr23Pro) rs1666338613 0.00001
NM_001193532.3(RAB42):c.103G>A (p.Gly35Ser) rs1666340098
NM_001193532.3(RAB42):c.126G>C (p.Glu42Asp) rs1666342242
NM_001193532.3(RAB42):c.176G>A (p.Arg59Gln)
NM_001193532.3(RAB42):c.181G>A (p.Gly61Arg) rs1160178638
NM_001193532.3(RAB42):c.187C>T (p.Arg63Trp)
NM_001193532.3(RAB42):c.370T>C (p.Phe124Leu)
NM_001193532.3(RAB42):c.446C>T (p.Ala149Val)
NM_001193532.3(RAB42):c.546G>T (p.Gln182His)
NM_001193532.3(RAB42):c.572G>T (p.Gly191Val) rs756486630
NM_001193532.3(RAB42):c.589C>T (p.Leu197Phe)
NM_001193532.3(RAB42):c.593T>C (p.Ile198Thr) rs2525536641
NM_001193532.3(RAB42):c.615G>T (p.Arg205Ser) rs764962162
NM_001193532.3(RAB42):c.651G>T (p.Gln217His)

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