ClinVar Miner

List of variants in gene CA5A studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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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.110G>A (p.Arg37His)
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) rs74041853
NM_001739.2(CA5A):c.143-15TC[5]
NM_001739.2(CA5A):c.143-9T>A rs12922226
NM_001739.2(CA5A):c.214A>C (p.Arg72=) rs150841082
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr) rs377135599
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
NM_001739.2(CA5A):c.450C>T (p.Tyr150=) rs368084033
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe) rs375321548
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
NM_001739.2(CA5A):c.619-3421_774+502del
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316
NM_001739.2(CA5A):c.720C>A (p.Thr240=) rs547918689
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) rs146136907
NM_001739.2(CA5A):c.767_774+13del
NM_001739.2(CA5A):c.774+7C>T rs373877038
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311
NM_001739.2(CA5A):c.819G>A (p.Glu273=)
NM_001739.2(CA5A):c.849A>G (p.Pro283=)
NM_001739.2(CA5A):c.882G>A (p.Ala294=) rs150891997
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) rs767402215

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