List of variants reported as likely pathogenic for Triglyceride storage disease with ichthyosis

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)	rs754573124	0.00002
NC_000003.11:g.(?_43743409)_(43744194_?)del
NC_000003.12:g.43688574_43691430del
NM_016006.6(ABHD5):c.345T>A (p.Ser115Arg)
NM_016006.6(ABHD5):c.683dup (p.Leu228fs)
NM_016006.6(ABHD5):c.836del (p.Gln279fs)	rs773892644
NM_016006.6(ABHD5):c.838C>T (p.Arg280Ter)	rs370301465

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