ClinVar Miner

List of variants in gene RASA1 studied for capillary malformation

Included ClinVar conditions (13):
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Total variants: 73
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HGVS dbSNP
NM_002890.3(RASA1):c.-128_-126GTT[2] rs371042291
NM_002890.3(RASA1):c.-179A>C rs886060838
NM_002890.3(RASA1):c.-198G>T rs149279711
NM_002890.3(RASA1):c.105G>T (p.Arg35=)
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)
NM_002890.3(RASA1):c.124C>T (p.Leu42=)
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
NM_002890.3(RASA1):c.143C>A (p.Pro48His) rs1580178676
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) rs1580178771
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) rs138308013
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
NM_002890.3(RASA1):c.346C>G (p.Leu116Val)
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro) rs145201086
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284
NM_002890.3(RASA1):c.384C>T (p.Leu128=) rs34385096
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.396C>T (p.Gly132=) rs898128418
NM_002890.3(RASA1):c.402T>C (p.Phe134=)
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018
NM_002890.3(RASA1):c.414C>G (p.Pro138=) rs762661391
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) rs765405975
NM_002890.3(RASA1):c.442dup (p.Ala148fs)
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
NM_002890.3(RASA1):c.453G>T (p.Gly151=)
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) rs373892264
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs)
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082
NM_002890.3(RASA1):c.522C>T (p.Thr174=)
NM_002890.3(RASA1):c.539+1G>C
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
NM_002890.3(RASA1):c.78C>T (p.Gly26=) rs752084710
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)

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