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

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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_000067.2(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
NM_000067.3(CA2):c.34+16G>C
NM_000067.3(CA2):c.5C>A (p.Ser2Tyr)

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