ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
NM_000067.3(CA2):c.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_000067.3(CA2):c.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 0.00005
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.508-7G>A rs886063149
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973

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