ClinVar Miner

List of variants reported as likely pathogenic for capillary malformation-arteriovenous malformation syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NC_000005.10:g.(?_87390790)_(87390893_?)del
NC_000005.9:g.(?_86627145)_(86672402_?)dup
NM_002890.3(RASA1):c.1049+2T>A
NM_002890.3(RASA1):c.1201del (p.Ile401fs) rs2112421707
NM_002890.3(RASA1):c.1253+2T>C
NM_002890.3(RASA1):c.1254-1G>A
NM_002890.3(RASA1):c.1333-17_1340del rs1760184679
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.13_37del (p.Glu5fs)
NM_002890.3(RASA1):c.1453+2T>C
NM_002890.3(RASA1):c.1454-11_1454-7del
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1777-2A>T rs1361155142
NM_002890.3(RASA1):c.1802AAG[1] (p.Glu602del)
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.1969A>C (p.Thr657Pro)
NM_002890.3(RASA1):c.2011+1G>A
NM_002890.3(RASA1):c.2011+1G>T
NM_002890.3(RASA1):c.2012-1G>A rs2112490726
NM_002890.3(RASA1):c.2012-2A>G rs2112490719
NM_002890.3(RASA1):c.207dup (p.Glu70fs)
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs) rs1761473319
NM_002890.3(RASA1):c.2485_2487+2del
NM_002890.3(RASA1):c.2487+2T>G rs2112495772
NM_002890.3(RASA1):c.2488-1G>A
NM_002890.3(RASA1):c.2590G>T (p.Glu864Ter)
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2604-1_2605del
NM_002890.3(RASA1):c.2655del (p.Trp885fs)
NM_002890.3(RASA1):c.2691-1G>C
NM_002890.3(RASA1):c.2771del (p.Pro924fs) rs2112513256
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.2926-1G>A
NM_002890.3(RASA1):c.2926-2_2927del
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3060+1G>A
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.539+1G>C rs2112223349
NM_002890.3(RASA1):c.539+2T>G
NM_002890.3(RASA1):c.540-2A>C rs2112365844
NM_002890.3(RASA1):c.693-1G>C
NM_002890.3(RASA1):c.693-6_711del rs1757676761
NM_002890.3(RASA1):c.828+1G>A rs2112369549
NM_002890.3(RASA1):c.828+1G>T
NM_002890.3(RASA1):c.899+1G>A
NM_002890.3(RASA1):c.899_899+3del
NM_004444.5(EPHB4):c.1124dup (p.Asp376fs) rs2116450530
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs) rs761905713
NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs)
NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys)
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp) rs2116443777
NM_004444.5(EPHB4):c.1738C>T (p.Gln580Ter) rs2116434296
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs) rs2116432544
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met) rs2116431583
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) rs1812966939
NM_004444.5(EPHB4):c.2197G>T (p.Glu733Ter)
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2270_2271dup (p.Asp758fs)
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu) rs2116416678
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met) rs1813296662
NM_004444.5(EPHB4):c.525C>G (p.Tyr175Ter)
NM_004444.5(EPHB4):c.732dup (p.Trp245fs)
NM_004444.5(EPHB4):c.964+3A>T
NM_006218.4(PIK3CA):c.323_337del (p.Arg108_Ile112del)

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