ClinVar Miner

List of variants in gene combination CA2, CA3 reported as uncertain significance for autosomal recessive osteopetrosis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.2(CA2):c.-130C>A rs570970117

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