ClinVar Miner

List of variants studied for cerebral cavernous malformation by 3billion

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_007217.4(PDCD10):c.475-1G>A rs1577317859
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_194454.3(KRIT1):c.1097del (p.Gly366fs) rs2131526402
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter) rs747380313
NM_194454.3(KRIT1):c.1648A>T (p.Lys550Ter)
NM_194454.3(KRIT1):c.1731-2A>G rs886039571

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