List of variants reported as benign for Holocarboxylase synthetase deficiency by Natera, Inc.

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)	rs1065758	0.11730
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)	rs61732502	0.04059
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)	rs61732504	0.03941
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)	rs61732507	0.02015
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)	rs1065759	0.01068
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)	rs61732501	0.00850
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)	rs75867009	0.00597
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)	rs2230182	0.00548
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)	rs149736764	0.00315
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)	rs112176097	0.00233
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)	rs146019354	0.00232
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)	rs146030669	0.00074
NM_001352514.2(HLCS):c.7_9del	rs201681436
NM_001352514.2(HLCS):c.1620+7del	rs140568778

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