ClinVar Miner

List of variants studied for Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002890.3(RASA1):c.1209A>G (p.Pro403=) rs367991324 0.00009
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys) rs2112495755
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823

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