List of variants in gene SOS1 studied for Noonan syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)	rs200786705	0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)	rs201352584	0.00019
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	rs371314838	0.00004
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)	rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	rs397517149
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	rs397517153
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del)	rs1572830219
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	rs267607079
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)	rs1553356023
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	rs727505093
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	rs137852812
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)	rs137852813

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