ClinVar Miner

List of variants in gene RAB3GAP1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994 0.00002
NM_012233.3(RAB3GAP1):c.460A>G (p.Ile154Val) rs750345824 0.00001
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) rs886054850
NM_012233.3(RAB3GAP1):c.722A>G (p.Gln241Arg)

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