List of variants reported as likely benign for disorder of plasmalogens biosynthesis by Natera, Inc.

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

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	rs113268723	0.00376
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	rs778087162	0.00034
NM_000288.4(PEX7):c.94C>T (p.Leu32=)	rs886061118	0.00032
NM_003659.4(AGPS):c.951C>T (p.Arg317=)	rs146526791	0.00021
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	rs191969418	0.00011
NM_003659.4(AGPS):c.157C>T (p.Leu53=)	rs77810072	0.00011
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	rs980211710	0.00005
NM_000288.4(PEX7):c.171G>C (p.Gly57=)	rs750791932	0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)	rs200039061	0.00004
NM_003659.4(AGPS):c.1209C>T (p.Ala403=)	rs761638262	0.00003
NM_000288.4(PEX7):c.297A>G (p.Lys99=)	rs766858149	0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=)	rs1236779327	0.00001
NM_003659.4(AGPS):c.141C>A (p.Gly47=)	rs1345248171	0.00001
NM_000288.4(PEX7):c.748-4G>T	rs74658757
NM_003659.4(AGPS):c.1536A>T (p.Ala512=)	rs1036071531
NM_003659.4(AGPS):c.72C>T (p.Asp24=)	rs923081006

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