ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as uncertain significance for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*267C>G
NM_002890.3(RASA1):c.*271A>C
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*577T>C
NM_002890.3(RASA1):c.*606G>A
NM_002890.3(RASA1):c.*748A>T
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.1017delinsTTAC (p.Gly340_Arg341insTyr)
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
NM_002890.3(RASA1):c.1254-4A>T rs369061989
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) rs199894378
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.1611-15G>A
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
NM_002890.3(RASA1):c.1796A>C (p.His599Pro)
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
NM_002890.3(RASA1):c.1935-3T>C rs201249348
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
NM_002890.3(RASA1):c.2603+2dup rs1580394003
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.2638T>A (p.Ser880Thr) rs878854571
NM_002890.3(RASA1):c.2648A>G (p.His883Arg)
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn)
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011
NM_002890.3(RASA1):c.2739G>T (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
NM_002890.3(RASA1):c.693-5A>G
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694

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