ClinVar Miner

List of variants in gene ABHD5, ANO10 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_001365650.1(ABHD5):c.-114A>G rs74845403
NM_001365650.1(ABHD5):c.-64G>A rs564192984
NM_001365650.1(ABHD5):c.-65G>C rs186175534
NM_001365650.1(ABHD5):c.-68C>G rs561357404
NM_001365650.1(ABHD5):c.-91C>G rs886058487
NM_001365650.1(ABHD5):c.-98C>A rs886058486
NM_016006.6(ABHD5):c.-19C>T rs117630969
NM_016006.6(ABHD5):c.-24C>T rs189850893
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336

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