List of variants in gene ABHD5 reported as pathogenic for Triglyceride storage disease with ichthyosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter)	rs761087968	0.00002
NM_016006.6(ABHD5):c.774-1G>A	rs908673218	0.00001
ABHD5, ARG184TER
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)	rs762662276
NM_016006.6(ABHD5):c.134-2A>G	rs1575600969
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro)	rs28939077
NM_016006.6(ABHD5):c.507-1G>A
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)	rs138876970
NM_016006.6(ABHD5):c.594dup (p.Arg199fs)	rs387906335
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)	rs28939078
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)	rs2084784131
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg)	rs1575607298
NM_016006.6(ABHD5):c.889C>T (p.Arg297Ter)
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)	rs104893675

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