ClinVar Miner

List of variants reported as not provided for Noonan syndrome

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_004985.5(KRAS):c.347A>G (p.Asn116Ser) rs202247812
NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) rs483352826
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839

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