ClinVar Miner

List of variants in gene RIT1 reported as pathogenic for Noonan syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)

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