List of variants reported as uncertain significance for Biotinidase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	0.00167
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	rs201023772	0.00020
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)	rs144901367	0.00012
NM_001370658.1(BTD):c.-38G>A	rs138473616	0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)	rs774052068	0.00004
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)	rs769903360	0.00002
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)	rs1003975438	0.00002
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)	rs886058115	0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	rs397514405	0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)	rs397514409	0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	rs397514359	0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)	rs397514366	0.00001
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)	rs541012569	0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)	rs397514376	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.-45A>T	rs540641302
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)	rs763540316
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	rs374141881
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)	rs199859507
NM_001370658.1(BTD):c.249+5G>T	rs2065329555
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)	rs762757117

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