ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_87390790)_(87390893_?)del
NM_002890.3(RASA1):c.1201del (p.Ile401fs) rs2112421707
NM_002890.3(RASA1):c.1253+2T>C
NM_002890.3(RASA1):c.1333-17_1340del rs1760184679
NM_002890.3(RASA1):c.1453+2T>C
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1777-2A>T rs1361155142
NM_002890.3(RASA1):c.1935-3T>G rs201249348
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.2452_2453del (p.Ile818fs) rs1761473319
NM_002890.3(RASA1):c.2487+2T>G rs2112495772
NM_002890.3(RASA1):c.2488-1G>A
NM_002890.3(RASA1):c.2603+2dup rs1580394003
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.2926-2_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.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_899+3del

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