List of variants in gene CA2 reported as pathogenic for Osteopetrosis with renal tubular acidosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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