ClinVar Miner

List of variants studied for cerebral cavernous malformation 3 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000003.12:g.(?_167683298_(167734892_?)del
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter) rs1577329665
NM_007217.4(PDCD10):c.475-1G>A rs1577317859
NM_007217.4(PDCD10):c.557+4_557+7del rs1553759042
NM_007217.4(PDCD10):c.97_150del rs2108438229

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