List of variants reported as benign for biotinidase deficiency

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	rs3817641	0.08986
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	rs35034250	0.01555
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	rs35145938	0.01185
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01107
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	rs34885143	0.01036
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)	rs114092911	0.00668
NM_001370658.1(BTD):c.585C>T (p.Leu195=)	rs145388314	0.00665
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)	rs148764524	0.00228
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	0.00163
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00154
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	rs142421934	0.00086
NM_001370658.1(BTD):c.-17+13C>G	rs531981188
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	rs397514333
NM_001370658.1(BTD):c.400-8del
NM_001370658.1(BTD):c.400-8dup	rs397514361

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