List of variants in gene RIT1 reported as pathogenic for RASopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)	rs869025189	0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	rs869025196	0.00001
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.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys)	rs868208063
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_006912.6(RIT1):c.268A>G (p.Met90Val)	rs1557960039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	rs672601335

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