ClinVar Miner

List of variants reported as not provided for RASopathy by Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
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_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
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_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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