ClinVar Miner

List of variants in gene CA5A reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
NC_000016.10:g.(?_87888109)_(87891974_?)del
NC_000016.10:g.(?_87904766)_(87904924_?)del
NC_000016.10:g.(?_87936289)_(87936470_?)del
NC_000016.9:g.(?_87938372)_(87960571_?)del
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570
NM_001739.2(CA5A):c.619-3421_774+502del
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) rs767402215

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