ClinVar Miner

List of variants in gene RAF1 reported as pathogenic for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.3(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830

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