ClinVar Miner

List of variants reported as benign for Capillary malformation-arteriovenous malformation 1 by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617 0.00998
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_002890.3(RASA1):c.829-12T>A rs187379673 0.00276
NM_002890.3(RASA1):c.1102+10T>C rs150779406 0.00268
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_002890.3(RASA1):c.*164A>G rs112969290 0.00085
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793 0.00073
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_002890.3(RASA1):c.*1001T>C rs536593719 0.00048
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169 0.00030
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395

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