ClinVar Miner

List of variants in gene CA2 reported as pathogenic for autosomal recessive osteopetrosis 3

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000067.3(CA2):c.319C>T (p.His107Tyr) rs118203933 0.00001
NM_000067.3(CA2):c.508-1G>C rs1444065478 0.00001
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter) rs118203934
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
NM_000067.3(CA2):c.621del (p.Trp208fs)
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368

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