List of variants reported as pathogenic for nutritional biotin deficiency by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00002
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00001

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