ClinVar Miner

List of variants in gene ANKIB1, KRIT1, LOC113748416 studied for cerebral cavernous malformation

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_194456.1(KRIT1):c.-680G>A rs28365965 0.07914
NM_194456.1(KRIT1):c.-741C>T rs58075588 0.02902
NM_019004.2(ANKIB1):c.-605T>C rs143215997 0.00775
NM_194456.1(KRIT1):c.-701C>T rs553392669 0.00245
NM_194456.1(KRIT1):c.-698G>A rs1437344467 0.00008
NM_194456.1(KRIT1):c.-691G>C rs932427766
NM_194456.1(KRIT1):c.-770G>T rs950572905
NM_194456.1(KRIT1):c.-780_-775dupCGGCTC rs886062498

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