List of variants reported as likely 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)	rs116985497	0.00235
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)	rs138209330	0.00087
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)	rs185480832	0.00011
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)	rs139697458	0.00010
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)	rs183589811	0.00010
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)	rs376665169	0.00007
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)	rs767988985	0.00004
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)	rs776800808	0.00002
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)	rs199936080	0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)	rs370118884	0.00001
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)	rs200877859	0.00001
NM_001352514.2(HLCS):c.1621-13_1621-10del	rs377641674
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)	rs1228716242

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