ClinVar Miner

List of variants in gene BRAF, LOC126860202 studied for RASopathy

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00007
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1140+7A>G rs1269596675 0.00003
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510 0.00002
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser) rs758935249 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.981-14C>A rs200002171 0.00001
NM_004333.6(BRAF):c.987A>G (p.Gln329=) rs749386136 0.00001
NM_004333.6(BRAF):c.992T>C (p.Leu331Pro) rs372915332 0.00001
NM_004333.6(BRAF):c.1002G>A (p.Pro334=)
NM_004333.6(BRAF):c.1004C>T (p.Ser335Phe)
NM_004333.6(BRAF):c.1012A>G (p.Lys338Glu)
NM_004333.6(BRAF):c.1021C>G (p.Pro341Ala)
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu)
NM_004333.6(BRAF):c.1029A>G (p.Pro343=)
NM_004333.6(BRAF):c.1040G>A (p.Arg347Gln)
NM_004333.6(BRAF):c.1051G>C (p.Glu351Gln) rs2129038019
NM_004333.6(BRAF):c.1058A>G (p.His353Arg) rs1802306841
NM_004333.6(BRAF):c.1076A>G (p.Gln359Arg)
NM_004333.6(BRAF):c.1077A>G (p.Gln359=)
NM_004333.6(BRAF):c.1083C>T (p.Asp361=) rs1802303516
NM_004333.6(BRAF):c.1085G>T (p.Arg362Leu)
NM_004333.6(BRAF):c.1087T>G (p.Ser363Ala)
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro) rs1038048880
NM_004333.6(BRAF):c.1103A>G (p.Asn368Ser) rs1802300066
NM_004333.6(BRAF):c.1117A>G (p.Thr373Ala)
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val) rs397507471
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) rs1278451495
NM_004333.6(BRAF):c.1140+13C>T
NM_004333.6(BRAF):c.981-16G>C

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