ClinVar Miner

List of variants studied for Noonan syndrome 4 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe) rs2529037379
NM_005633.4(SOS1):c.1473_1474insAAAAAAAAA (p.Lys491_Glu492insLysLysLys) rs2529036983
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala) rs2528926385
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005633.4(SOS1):c.806T>A (p.Met269Lys)
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180

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