List of variants in gene PRODH reported as pathogenic for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=)	rs450046	0.99713
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)	rs2904552	0.06735
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)	rs3970559	0.01765
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)	rs137852934	0.00464
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)	rs2870984	0.00314
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)	rs1807467	0.00112
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter)	rs772562722	0.00001
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
NC_000022.10:g.(?_18900293)_(18923807_?)del
NC_000022.10:g.(?_18910310)_(18923800_?)del
NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly)	rs193919334
NM_016335.6(PRODH):c.175C>T (p.Gln59Ter)
NM_016335.6(PRODH):c.236T>A (p.Leu79Ter)	rs2146223995
NM_016335.6(PRODH):c.323del (p.Leu108fs)
NM_016335.6(PRODH):c.379C>T (p.Gln127Ter)
NM_016335.6(PRODH):c.38dup (p.Cys13fs)
NM_016335.6(PRODH):c.457del (p.Glu153fs)
NM_016335.6(PRODH):c.522_526dup (p.Lys176fs)	rs1305005935
NM_016335.6(PRODH):c.543C>A (p.Tyr181Ter)
NM_016335.6(PRODH):c.969_972del (p.Ser323fs)

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