ClinVar Miner

List of variants in gene ABHD5, ANO10 studied for Dorfman-Chanarin disease

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_016006.5(ABHD5):c.-114A>G rs74845403 0.07857
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045 0.01973
NM_016006.6(ABHD5):c.-19C>T rs117630969 0.01822
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259 0.00433
NM_016006.5(ABHD5):c.-68C>G rs561357404 0.00109
NM_016006.5(ABHD5):c.-65G>C rs186175534 0.00106
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676 0.00087
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) rs138400599 0.00081
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157 0.00023
NM_016006.6(ABHD5):c.-48C>T rs372014366 0.00021
NM_016006.5(ABHD5):c.-64G>A rs564192984 0.00016
NM_016006.6(ABHD5):c.-24C>T rs189850893 0.00006
NM_016006.5(ABHD5):c.-91C>G rs886058487 0.00002
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys) rs761863848 0.00001
NM_016006.5(ABHD5):c.-98C>A rs886058486
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336

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