List of variants reported as likely benign for biotinidase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00156
NM_001370658.1(BTD):c.339G>A (p.Pro113=)	rs181743799	0.00133
NM_001370658.1(BTD):c.430A>C (p.Arg144=)	rs556096072	0.00023
NM_001370658.1(BTD):c.603C>T (p.Phe201=)	rs142418812	0.00011
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)	rs781065270	0.00007
NM_001370658.1(BTD):c.1188C>T (p.His396=)	rs372039874	0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)	rs201823743	0.00005
NM_001370658.1(BTD):c.1014T>C (p.His338=)	rs371365798	0.00004
NM_001370658.1(BTD):c.183G>A (p.Glu61=)	rs753816877	0.00002

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