ClinVar Miner

List of variants in gene RIT1 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) rs760845441 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.118C>T (p.Gln40Ter) rs1057518189
NM_006912.6(RIT1):c.130C>T (p.His44Tyr)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.172T>G (p.Tyr58Asp) rs2527182426
NM_006912.6(RIT1):c.176A>C (p.Lys59Thr)
NM_006912.6(RIT1):c.179T>C (p.Ile60Thr)
NM_006912.6(RIT1):c.211C>G (p.Leu71Val) rs777167776
NM_006912.6(RIT1):c.220T>A (p.Leu74Met)
NM_006912.6(RIT1):c.22G>A (p.Val8Ile)
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.308C>T (p.Thr103Met) rs1673389476
NM_006912.6(RIT1):c.317G>A (p.Arg106Gln)
NM_006912.6(RIT1):c.326A>T (p.His109Leu) rs1407666045
NM_006912.6(RIT1):c.358C>G (p.Arg120Gly) rs2102584744
NM_006912.6(RIT1):c.43C>T (p.Pro15Ser)
NM_006912.6(RIT1):c.508T>C (p.Tyr170His) rs1064796871
NM_006912.6(RIT1):c.511A>G (p.Ile171Val) rs2527171483
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.547C>G (p.Arg183Gly) rs770853133
NM_006912.6(RIT1):c.551G>T (p.Arg184Met) rs1401658925
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.602A>T (p.Asn201Ile)
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter) rs767498196
NM_006912.6(RIT1):c.653_655delinsCAC (p.Val218_Thr219delinsAlaPro) rs2527170841

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