ClinVar Miner

List of variants studied for cerebral cavernous malformation by Revvity Omics, Revvity

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) rs1559941903
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659

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