ClinVar Miner

List of variants in gene combination ANKIB1, KRIT1, LOC113748416 reported as uncertain significance for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_019004.2(ANKIB1):c.-596C>T rs1437344467 0.00008
NM_019004.2(ANKIB1):c.-516CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A rs950572905
NM_019004.2(ANKIB1):c.-603C>G rs932427766

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