ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000005.10:g.(?_87390790)_(87390893_?)del
NM_002890.3(RASA1):c.1333-17_1340del
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1777-2A>T
NM_002890.3(RASA1):c.1934+2T>G
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.693-6_711del
NM_002890.3(RASA1):c.828+1G>A

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