ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as likely benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480
NM_002890.3(RASA1):c.1347A>G (p.Val449=)
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1444C>T (p.Leu482=)
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=)
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130
NM_002890.3(RASA1):c.1911A>G (p.Val637=) rs370957991
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) rs192308897
NM_002890.3(RASA1):c.2052T>C (p.His684=)
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383
NM_002890.3(RASA1):c.2316A>G (p.Thr772=)
NM_002890.3(RASA1):c.2345-5T>C
NM_002890.3(RASA1):c.2345-6del rs747443446
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr)
NM_002890.3(RASA1):c.2487+13T>A
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320
NM_002890.3(RASA1):c.2691-11C>T rs149730288
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2700T>C (p.Val900=)
NM_002890.3(RASA1):c.2724C>T (p.Ala908=)
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2926-8C>T rs369251473
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) rs182498192
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)

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