ClinVar Miner

List of variants in gene PRODH studied for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046 0.99713
NM_016335.6(PRODH):c.*19T>C rs383964 0.93277
NM_016335.6(PRODH):c.1741C>T (p.Leu581=) rs372055 0.75175
NM_016335.6(PRODH):c.553T>C (p.Trp185Arg) rs4819756 0.63786
NM_016335.6(PRODH):c.849+23C>T rs2008903 0.63732
NM_016335.6(PRODH):c.991T>C (p.Leu331=) rs1808320 0.62390
NM_016335.6(PRODH):c.56C>A (p.Pro19Gln) rs2008720 0.56125
NM_016335.6(PRODH):c.553= (p.Trp185=) rs4819756 0.34949
NM_016335.6(PRODH):c.1623C>T (p.Ala541=) rs16983347 0.22137
NM_016335.6(PRODH):c.1278C>T (p.Asp426=) rs16983466 0.20443
NM_016335.6(PRODH):c.88C>T (p.Pro30Ser) rs3815655 0.14238
NM_016335.6(PRODH):c.1440C>T (p.Tyr480=) rs5992333 0.11200
NM_016335.6(PRODH):c.216G>C (p.Arg72=) rs1808323 0.10388
NM_016335.6(PRODH):c.273+4C>T rs3815653 0.09139
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_016335.6(PRODH):c.1414G>A (p.Ala472Thr) rs2870983 0.05529
NM_016335.6(PRODH):c.554G>A (p.Trp185Ter) rs11913840 0.05253
NM_016335.6(PRODH):c.1279G>A (p.Val427Met) rs2238731 0.03801
NM_016335.6(PRODH):c.172G>A (p.Ala58Thr) rs146648839 0.02924
NM_016335.6(PRODH):c.1362G>A (p.Ala454=) rs2238730 0.02855
NM_016335.6(PRODH):c.1374C>A (p.Gly458=) rs2904550 0.02048
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_016335.6(PRODH):c.1463A>G (p.Asn488Ser) rs139903009 0.01565
NM_016335.6(PRODH):c.1173C>T (p.Ser391=) rs3970556 0.00960
NM_016335.6(PRODH):c.650G>A (p.Arg217His) rs148375080 0.00695
NM_016335.6(PRODH):c.23C>T (p.Pro8Leu) rs181332931 0.00601
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.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_016335.6(PRODH):c.1265A>G (p.Asn422Ser) rs144751631 0.00220
NM_016335.6(PRODH):c.21G>T (p.Leu7=) rs539772713 0.00151
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.517+19C>T rs370155847 0.00088
NM_016335.6(PRODH):c.42T>C (p.Ile14=) rs761010757 0.00082
NM_016335.6(PRODH):c.1252-14C>T rs189009057 0.00073
NM_016335.6(PRODH):c.822C>T (p.Asp274=) rs146178333 0.00059
NM_016335.6(PRODH):c.703C>T (p.Leu235Phe) rs534685286 0.00057
NM_016335.6(PRODH):c.14G>A (p.Arg5His) rs549947897 0.00051
NM_016335.6(PRODH):c.1170C>T (p.Ile390=) rs552700874 0.00039
NM_016335.6(PRODH):c.1104+16C>T rs182795102 0.00037
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr) rs370003523 0.00036
NM_016335.6(PRODH):c.1560C>T (p.His520=) rs142972542 0.00033
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) rs199907923 0.00029
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=) rs200018716 0.00028
NM_016335.6(PRODH):c.1398G>A (p.Thr466=) rs142247512 0.00024
NM_016335.6(PRODH):c.606C>T (p.Tyr202=) rs149344100 0.00023
NM_016335.6(PRODH):c.1126C>T (p.Arg376Trp) rs558320099 0.00022
NM_016335.6(PRODH):c.457G>A (p.Glu153Lys) rs139870359 0.00022
NM_016335.6(PRODH):c.780A>G (p.Gln260=) rs202042437 0.00022
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp) rs184218784 0.00020
NM_016335.6(PRODH):c.1065G>A (p.Gln355=) rs546571456 0.00017
NM_016335.6(PRODH):c.1143C>T (p.Ala381=) rs560442727 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_016335.6(PRODH):c.1062A>G (p.Leu354=) rs376319831 0.00016
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu) rs140129512 0.00014
NM_016335.6(PRODH):c.873C>T (p.Ile291=) rs146652616 0.00014
NM_016335.6(PRODH):c.1105-10C>T rs200237251 0.00012
NM_016335.6(PRODH):c.273+16G>C rs760963520 0.00010
NM_016335.6(PRODH):c.174G>T (p.Ala58=) rs931875471 0.00009
NM_016335.6(PRODH):c.220C>T (p.Leu74=) rs1332640987 0.00009
NM_016335.6(PRODH):c.1011+11C>T rs533126839 0.00008
NM_016335.6(PRODH):c.733-9C>T rs372502306 0.00008
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.456C>T (p.Pro152=) rs747609336 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.518-11C>T rs112526442 0.00004
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.417C>T (p.Ser139=) rs1414061185 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.1251+10C>T rs755799435 0.00002
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys) rs1239323884 0.00002
NM_016335.6(PRODH):c.468G>A (p.Glu156=) rs749195093 0.00002
NM_016335.6(PRODH):c.1006G>A (p.Ala336Thr) rs1160517835 0.00001
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter) rs772562722 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.1427+8G>T rs765272958 0.00001
NM_016335.6(PRODH):c.1615+1G>C rs745902339 0.00001
NM_016335.6(PRODH):c.1659C>T (p.Pro553=) rs778275329 0.00001
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
NC_000022.10:g.(?_18900293)_(18923807_?)del
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
NC_000022.10:g.(?_18910310)_(18923800_?)del
NM_016335.6(PRODH):c.1003A>G (p.Asn335Asp) rs1044791075
NM_016335.6(PRODH):c.1005C>T (p.Asn335=) rs149926285
NM_016335.6(PRODH):c.1011+12G>A
NM_016335.6(PRODH):c.1012-15G>A
NM_016335.6(PRODH):c.1012-16C>T
NM_016335.6(PRODH):c.1012-18C>T
NM_016335.6(PRODH):c.1012-3C>T rs371062452
NM_016335.6(PRODH):c.1021C>T (p.Leu341=)
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.1071C>G (p.Thr357=)
NM_016335.6(PRODH):c.1085G>A (p.Arg362Gln)
NM_016335.6(PRODH):c.1091A>G (p.Asp364Gly) rs1057524390
NM_016335.6(PRODH):c.1098G>T (p.Leu366=) rs2146211029
NM_016335.6(PRODH):c.1104+2T>C
NM_016335.6(PRODH):c.1105-13C>G
NM_016335.6(PRODH):c.1105-14C>A
NM_016335.6(PRODH):c.1105-14C>G
NM_016335.6(PRODH):c.1105-14C>T rs1076466
NM_016335.6(PRODH):c.1105-9G>A
NM_016335.6(PRODH):c.1127G>A (p.Arg376Gln)
NM_016335.6(PRODH):c.1133T>A (p.Met378Lys) rs752953633
NM_016335.6(PRODH):c.1152C>G (p.Thr384=)
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.6(PRODH):c.1164G>A (p.Pro388=) rs773989059
NM_016335.6(PRODH):c.1182G>C (p.Thr394=)
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.123G>A (p.Gly41=)
NM_016335.6(PRODH):c.1251+6C>T
NM_016335.6(PRODH):c.1251+7C>T
NM_016335.6(PRODH):c.1278C>A (p.Asp426Glu)
NM_016335.6(PRODH):c.128C>T (p.Ala43Val)
NM_016335.6(PRODH):c.129C>G (p.Ala43=)
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.1344C>G (p.Ala448=)
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.1386C>A (p.Pro462=)
NM_016335.6(PRODH):c.1390A>C (p.Asn464His) rs2146209436
NM_016335.6(PRODH):c.1395C>T (p.Pro465=)
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.1413C>T (p.Asn471=)
NM_016335.6(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.6(PRODH):c.1427+20C>G
NM_016335.6(PRODH):c.1427+4C>T
NM_016335.6(PRODH):c.1428-15T>C
NM_016335.6(PRODH):c.1464C>T (p.Asn488=)
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser) rs1241975657
NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)
NM_016335.6(PRODH):c.1515T>C (p.Phe505=) rs455072
NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)
NM_016335.6(PRODH):c.151C>T (p.Pro51Ser)
NM_016335.6(PRODH):c.1526+15C>T
NM_016335.6(PRODH):c.1527-11C>T
NM_016335.6(PRODH):c.1527-19C>T
NM_016335.6(PRODH):c.1527-3C>T rs2146205858
NM_016335.6(PRODH):c.1527-9C>T
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.1561C>G (p.Arg521Gly) rs193919334
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016335.6(PRODH):c.1611G>A (p.Pro537=)
NM_016335.6(PRODH):c.1612C>A (p.Leu538Met)
NM_016335.6(PRODH):c.1615+13C>G
NM_016335.6(PRODH):c.1615+20G>C
NM_016335.6(PRODH):c.1615+20G>T
NM_016335.6(PRODH):c.1616-16A>T
NM_016335.6(PRODH):c.1616-20G>A
NM_016335.6(PRODH):c.1616-4G>A
NM_016335.6(PRODH):c.1617C>T (p.Gly539=)
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_016335.6(PRODH):c.1632C>T (p.Pro544=)
NM_016335.6(PRODH):c.1633G>A (p.Val545Met)
NM_016335.6(PRODH):c.1644C>T (p.Tyr548=)
NM_016335.6(PRODH):c.1660G>A (p.Val554Met)
NM_016335.6(PRODH):c.1674G>A (p.Leu558=)
NM_016335.6(PRODH):c.1704C>T (p.Asn568=)
NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)
NM_016335.6(PRODH):c.1758C>T (p.Leu586=)
NM_016335.6(PRODH):c.175C>T (p.Gln59Ter)
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.18C>A (p.Ala6=)
NM_016335.6(PRODH):c.18C>T (p.Ala6=)
NM_016335.6(PRODH):c.193C>T (p.Arg65Trp)
NM_016335.6(PRODH):c.19C>T (p.Leu7=)
NM_016335.6(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.6(PRODH):c.21G>C (p.Leu7=)
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.236T>A (p.Leu79Ter) rs2146223995
NM_016335.6(PRODH):c.237G>C (p.Leu79Phe) rs2008733
NM_016335.6(PRODH):c.249C>G (p.Pro83=)
NM_016335.6(PRODH):c.24C>T (p.Pro8=)
NM_016335.6(PRODH):c.255G>C (p.Leu85=)
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys) rs1023813331
NM_016335.6(PRODH):c.270G>A (p.Glu90=) rs562699700
NM_016335.6(PRODH):c.273+16G>A
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.323del (p.Leu108fs)
NM_016335.6(PRODH):c.336C>T (p.Thr112=)
NM_016335.6(PRODH):c.350T>C (p.Phe117Ser)
NM_016335.6(PRODH):c.357C>T (p.Ala119=)
NM_016335.6(PRODH):c.358G>A (p.Gly120Arg) rs979499476
NM_016335.6(PRODH):c.369G>A (p.Gln123=)
NM_016335.6(PRODH):c.379C>T (p.Gln127Ter)
NM_016335.6(PRODH):c.383C>T (p.Pro128Leu) rs2146219914
NM_016335.6(PRODH):c.38dup (p.Cys13fs)
NM_016335.6(PRODH):c.408C>T (p.Phe136=) rs143311513
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.456C>G (p.Pro152=)
NM_016335.6(PRODH):c.457del (p.Glu153fs)
NM_016335.6(PRODH):c.482+13C>T
NM_016335.6(PRODH):c.482+15G>A
NM_016335.6(PRODH):c.482+6G>A rs571651683
NM_016335.6(PRODH):c.483-10C>T
NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)
NM_016335.6(PRODH):c.486C>G (p.Ser162=)
NM_016335.6(PRODH):c.510T>A (p.Asp170Glu)
NM_016335.6(PRODH):c.517+17C>T
NM_016335.6(PRODH):c.518-19C>T
NM_016335.6(PRODH):c.518-4C>T
NM_016335.6(PRODH):c.522_526dup (p.Lys176fs) rs1305005935
NM_016335.6(PRODH):c.531_532delinsTA (p.Asp178Asn)
NM_016335.6(PRODH):c.543C>A (p.Tyr181Ter)
NM_016335.6(PRODH):c.54C>T (p.Val18=) rs1032634465
NM_016335.6(PRODH):c.553_554inv (p.Trp185Gln)
NM_016335.6(PRODH):c.561C>T (p.Phe187=)
NM_016335.6(PRODH):c.57G>A (p.Pro19=) rs1479974810
NM_016335.6(PRODH):c.583A>G (p.Ile195Val)
NM_016335.6(PRODH):c.593G>T (p.Arg198Leu)
NM_016335.6(PRODH):c.609C>T (p.Ala203=)
NM_016335.6(PRODH):c.610A>G (p.Asn204Asp)
NM_016335.6(PRODH):c.611A>G (p.Asn204Ser)
NM_016335.6(PRODH):c.612T>C (p.Asn204=)
NM_016335.6(PRODH):c.649C>T (p.Arg217Cys)
NM_016335.6(PRODH):c.668-5G>A
NM_016335.6(PRODH):c.679G>A (p.Asp227Asn)
NM_016335.6(PRODH):c.697A>C (p.Ile233Leu)
NM_016335.6(PRODH):c.69G>T (p.Ala23=)
NM_016335.6(PRODH):c.721C>T (p.Pro241Ser)
NM_016335.6(PRODH):c.730C>T (p.Leu244=)
NM_016335.6(PRODH):c.732+14C>A
NM_016335.6(PRODH):c.733-13C>T
NM_016335.6(PRODH):c.733-5del rs3216765
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.804G>A (p.Ala268=) rs1174381102
NM_016335.6(PRODH):c.81C>A (p.Arg27=)
NM_016335.6(PRODH):c.824C>A (p.Thr275Asn) rs5747933
NM_016335.6(PRODH):c.829C>A (p.Leu277Met) rs143408578
NM_016335.6(PRODH):c.829C>T (p.Leu277=)
NM_016335.6(PRODH):c.849+16_849+17del rs2146213055
NM_016335.6(PRODH):c.849+45del rs5844366
NM_016335.6(PRODH):c.850-10A>G
NM_016335.6(PRODH):c.850-18G>C
NM_016335.6(PRODH):c.858C>T (p.Val286=)
NM_016335.6(PRODH):c.87G>A (p.Gln29=) rs1417739533
NM_016335.6(PRODH):c.880A>G (p.Arg294Gly) rs2081960374
NM_016335.6(PRODH):c.891T>A (p.Ile297=)
NM_016335.6(PRODH):c.90C>T (p.Pro30=) rs2146224247
NM_016335.6(PRODH):c.925T>C (p.Ser309Pro)
NM_016335.6(PRODH):c.929+12C>G
NM_016335.6(PRODH):c.929+3G>A
NM_016335.6(PRODH):c.92C>T (p.Ala31Val)
NM_016335.6(PRODH):c.930-14G>A
NM_016335.6(PRODH):c.930-15C>T rs201272622
NM_016335.6(PRODH):c.933C>T (p.Thr311=)
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)
NM_016335.6(PRODH):c.969_972del (p.Ser323fs)
NM_016335.6(PRODH):c.972G>A (p.Arg324=)
NM_016335.6(PRODH):c.981G>A (p.Leu327=)

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