ClinVar Miner

List of variants in gene RAP1B studied for Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001010942.3(RAP1B):c.11A>G (p.Tyr4Cys)
NM_001010942.3(RAP1B):c.176C>G (p.Ala59Gly) rs2135963070
NM_001010942.3(RAP1B):c.178G>A (p.Gly60Arg) rs2499143529
NM_001010942.3(RAP1B):c.178G>C (p.Gly60Arg) rs2499143529
NM_001010942.3(RAP1B):c.35G>A (p.Gly12Glu) rs2499133668
NM_001010942.3(RAP1B):c.35G>T (p.Gly12Val) rs2499133668

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