ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Invitae

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Total variants: 42
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HGVS dbSNP
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)

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