ClinVar Miner

List of variants studied for Noonan syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_033360.4(KRAS):c.*44C>T rs1555192443

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