ClinVar Miner

List of variants in gene RASA1 studied for Capillary malformation-arteriovenous malformation 1

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Total variants: 25
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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.-198G>T rs149279711 0.00708
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
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.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420 0.00002
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467 0.00002
NM_002890.3(RASA1):c.-179A>C rs886060838 0.00001
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609 0.00001
NM_002890.2:c.540-406_692+21735del
NM_002890.3(RASA1):c.-128GTT[2] rs371042291
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg) rs1580178676
NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)
NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.402T>C (p.Phe134=) rs1329000012
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile) rs899638423
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.499del (p.Glu167fs) rs2112223281
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro) rs1753667262

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