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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 115

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HGVS	dbSNP	gnomAD frequency
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)	rs2904552	0.06735
NM_016335.6(PRODH):c.650G>A (p.Arg217His)	rs148375080	0.00695
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)	rs137852934	0.00464
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)	rs3970555	0.00149
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)	rs1807467	0.00112
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)	rs199907923	0.00029
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)	rs184218784	0.00020
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu)	rs140129512	0.00014
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln)	rs145456430	0.00007
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile)	rs768237039	0.00006
NM_016335.6(PRODH):c.1295G>A (p.Arg432His)	rs143011525	0.00006
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)	rs777930066	0.00005
NM_016335.6(PRODH):c.853A>G (p.Ser285Gly)	rs199829422	0.00005
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser)	rs142346005	0.00003
NM_016335.6(PRODH):c.338T>A (p.Phe113Tyr)	rs372030860	0.00003
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp)	rs753625227	0.00003
NM_016335.6(PRODH):c.80G>T (p.Arg27Leu)	rs1411529753	0.00003
NM_016335.6(PRODH):c.1174C>T (p.Arg392Cys)	rs1336190354	0.00002
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys)	rs1239323884	0.00002
NM_016335.6(PRODH):c.1006G>A (p.Ala336Thr)	rs1160517835	0.00001
NM_016335.6(PRODH):c.1294C>T (p.Arg432Cys)	rs376682221	0.00001
NM_016335.6(PRODH):c.131C>G (p.Thr44Arg)	rs562183461	0.00001
NM_016335.6(PRODH):c.1615+1G>C	rs745902339	0.00001
NC_000022.10:g.(?_18900668)_(18906024_?)dup
NC_000022.10:g.(?_18900688)_(18904521_?)dup
NC_000022.10:g.(?_18900688)_(18923800_?)dup
NC_000022.10:g.(?_18906944)_(18923800_?)dup
NM_016335.6(PRODH):c.1003A>G (p.Asn335Asp)	rs1044791075
NM_016335.6(PRODH):c.1012-3C>T	rs371062452
NM_016335.6(PRODH):c.1036T>G (p.Ser346Ala)	rs2081951548
NM_016335.6(PRODH):c.1049A>G (p.Glu350Gly)
NM_016335.6(PRODH):c.106G>A (p.Ala36Thr)
NM_016335.6(PRODH):c.1085G>A (p.Arg362Gln)
NM_016335.6(PRODH):c.1091A>G (p.Asp364Gly)	rs1057524390
NM_016335.6(PRODH):c.1133T>A (p.Met378Lys)	rs752953633
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu)	rs147233639
NM_016335.6(PRODH):c.118G>C (p.Gly40Arg)	rs780423887
NM_016335.6(PRODH):c.1190T>G (p.Met397Arg)
NM_016335.6(PRODH):c.1238A>C (p.Gln413Pro)
NM_016335.6(PRODH):c.1251+6C>T
NM_016335.6(PRODH):c.1278C>A (p.Asp426Glu)
NM_016335.6(PRODH):c.128C>T (p.Ala43Val)
NM_016335.6(PRODH):c.1301G>A (p.Gly434Asp)
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del)	rs949036081
NM_016335.6(PRODH):c.1310T>C (p.Phe437Ser)
NM_016335.6(PRODH):c.1328G>A (p.Arg443Gln)
NM_016335.6(PRODH):c.1350G>T (p.Glu450Asp)
NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser)	rs2081943034
NM_016335.6(PRODH):c.1373G>A (p.Gly458Asp)
NM_016335.6(PRODH):c.1390A>C (p.Asn464His)	rs2146209436
NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)	rs2870984
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)	rs372618210
NM_016335.6(PRODH):c.1418T>C (p.Met473Thr)	rs1555890224
NM_016335.6(PRODH):c.1427+4C>T
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)	rs1241975657
NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)
NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)
NM_016335.6(PRODH):c.151C>T (p.Pro51Ser)
NM_016335.6(PRODH):c.1527-3C>T	rs2146205858
NM_016335.6(PRODH):c.152C>T (p.Pro51Leu)
NM_016335.6(PRODH):c.1531G>A (p.Glu511Lys)
NM_016335.6(PRODH):c.1544T>G (p.Leu515Arg)
NM_016335.6(PRODH):c.1558C>T (p.His520Tyr)
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)	rs372187772
NM_016335.6(PRODH):c.1612C>A (p.Leu538Met)
NM_016335.6(PRODH):c.1633G>A (p.Val545Met)
NM_016335.6(PRODH):c.1660G>A (p.Val554Met)
NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln)	rs779412444
NM_016335.6(PRODH):c.1786T>C (p.Phe596Leu)
NM_016335.6(PRODH):c.1791T>G (p.His597Gln)
NM_016335.6(PRODH):c.1792C>T (p.Arg598Cys)
NM_016335.6(PRODH):c.1793G>A (p.Arg598His)
NM_016335.6(PRODH):c.1803G>A (p.Ter601=)	rs1183388799
NM_016335.6(PRODH):c.187C>T (p.Arg63Cys)
NM_016335.6(PRODH):c.193C>T (p.Arg65Trp)
NM_016335.6(PRODH):c.223C>A (p.Leu75Met)	rs1391433654
NM_016335.6(PRODH):c.22C>T (p.Pro8Ser)	rs944412642
NM_016335.6(PRODH):c.237G>C (p.Leu79Phe)	rs2008733
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys)	rs1023813331
NM_016335.6(PRODH):c.273G>A (p.Gln91=)	rs2146223897
NM_016335.6(PRODH):c.296T>G (p.Leu99Arg)
NM_016335.6(PRODH):c.298C>G (p.Leu100Val)
NM_016335.6(PRODH):c.305A>G (p.Gln102Arg)
NM_016335.6(PRODH):c.309G>T (p.Arg103Ser)
NM_016335.6(PRODH):c.350T>C (p.Phe117Ser)
NM_016335.6(PRODH):c.358G>A (p.Gly120Arg)	rs979499476
NM_016335.6(PRODH):c.383C>T (p.Pro128Leu)	rs2146219914
NM_016335.6(PRODH):c.418G>A (p.Ala140Thr)
NM_016335.6(PRODH):c.41T>C (p.Ile14Thr)
NM_016335.6(PRODH):c.427G>T (p.Asp143Tyr)
NM_016335.6(PRODH):c.482+6G>A	rs571651683
NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)
NM_016335.6(PRODH):c.531_532delinsTA (p.Asp178Asn)
NM_016335.6(PRODH):c.583A>G (p.Ile195Val)
NM_016335.6(PRODH):c.593G>T (p.Arg198Leu)
NM_016335.6(PRODH):c.610A>G (p.Asn204Asp)
NM_016335.6(PRODH):c.611A>G (p.Asn204Ser)
NM_016335.6(PRODH):c.649C>T (p.Arg217Cys)
NM_016335.6(PRODH):c.679G>A (p.Asp227Asn)
NM_016335.6(PRODH):c.697A>C (p.Ile233Leu)
NM_016335.6(PRODH):c.721C>T (p.Pro241Ser)
NM_016335.6(PRODH):c.733C>T (p.Leu245=)
NM_016335.6(PRODH):c.767G>T (p.Cys256Phe)
NM_016335.6(PRODH):c.803C>T (p.Ala268Val)	rs375358521
NM_016335.6(PRODH):c.829C>A (p.Leu277Met)	rs143408578
NM_016335.6(PRODH):c.850-10A>G
NM_016335.6(PRODH):c.880A>G (p.Arg294Gly)	rs2081960374
NM_016335.6(PRODH):c.925T>C (p.Ser309Pro)
NM_016335.6(PRODH):c.929+3G>A
NM_016335.6(PRODH):c.92C>T (p.Ala31Val)
NM_016335.6(PRODH):c.933_934inv (p.Met312Val)
NM_016335.6(PRODH):c.934A>G (p.Met312Val)
NM_016335.6(PRODH):c.964G>A (p.Asp322Asn)

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