ClinVar Miner

List of variants in gene ABHD5 reported as pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.774-1G>A
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) rs1575607298
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) rs761087968
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675

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