List of variants reported as likely benign for disorder of plasmalogens biosynthesis by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_014236.4(GNPAT):c.1056-20C>A	rs114267453	0.00176
NM_014236.4(GNPAT):c.925-16G>A	rs41305723	0.00157
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)	rs143205045	0.00110
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	rs759572190	0.00069
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)	rs148418568	0.00062
NM_003659.4(AGPS):c.637+13C>T	rs182602770	0.00060
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)	rs139272614	0.00036
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	rs767584572	0.00029
NM_003659.4(AGPS):c.1797+11A>G	rs375071040	0.00007
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	rs980211710	0.00005
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=)	rs894887033	0.00004
NM_003659.4(AGPS):c.1204G>A (p.Val402Ile)
NM_003659.4(AGPS):c.1233+13AT[7]	rs200546003
NM_014236.4(GNPAT):c.1305C>T (p.Val435=)
NM_014236.4(GNPAT):c.1937+9T>A

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