List of variants reported as uncertain significance for inborn disorder of ornithine metabolism by Natera, Inc.

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

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)	rs140786333	0.00019
NM_000274.4(OAT):c.517G>A (p.Ala173Thr)	rs372152657	0.00014
NM_000274.4(OAT):c.546G>T (p.Leu182Phe)	rs144763058	0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met)	rs148433929	0.00011
NM_000274.4(OAT):c.1291A>G (p.Ile431Val)	rs138709143	0.00010
NM_000274.4(OAT):c.1015-5C>T	rs764963374	0.00009
NM_000274.4(OAT):c.283C>T (p.Pro95Ser)	rs372105047	0.00008
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn)	rs745530000	0.00004
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln)	rs776819570	0.00003
NM_000274.4(OAT):c.650G>A (p.Arg217His)	rs774853325	0.00003
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe)	rs768685095	0.00002
NM_000274.4(OAT):c.1255G>C (p.Val419Leu)	rs760922693	0.00002
NM_000274.4(OAT):c.202A>G (p.Ile68Val)	rs766674632	0.00002
NM_000274.4(OAT):c.785C>A (p.Ala262Asp)	rs772762366	0.00002
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr)	rs774831749	0.00001
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys)	rs936463102	0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	rs1043163922	0.00001
NM_000274.4(OAT):c.49G>A (p.Gly17Arg)	rs760716065	0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=)	rs369806549	0.00001
NM_000274.4(OAT):c.823T>A (p.Trp275Arg)	rs947658691	0.00001
NM_000274.4(OAT):c.116C>T (p.Thr39Ile)	rs754764229
NM_000274.4(OAT):c.199+5G>A	rs1564739598
NM_000274.4(OAT):c.413C>T (p.Pro138Leu)	rs1951673489
NM_000274.4(OAT):c.43A>T (p.Ser15Cys)	rs1453312313
NM_000274.4(OAT):c.521-6T>G	rs369018496
NM_000274.4(OAT):c.614A>G (p.Asp205Gly)	rs375157197
NM_000274.4(OAT):c.718G>A (p.Val240Ile)	rs777488833
NM_000274.4(OAT):c.966A>T (p.Thr322=)	rs1951417723

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