List of variants in gene SOS1 reported as likely 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)	rs142094234	0.00002
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)	rs730881042	0.00001
NM_005633.4(SOS1):c.1296G>C (p.Trp432Cys)
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn)	rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	rs397517150
NM_005633.4(SOS1):c.1455T>G (p.Asn485Lys)
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)	rs730881046
NM_005633.4(SOS1):c.2105A>C (p.Tyr702Ser)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.255G>C (p.Trp85Cys)
NM_005633.4(SOS1):c.796A>C (p.Thr266Pro)	rs2124596942
NM_005633.4(SOS1):c.797C>G (p.Thr266Arg)	rs137852812
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg)	rs1671004485

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