ClinVar Miner

List of variants in gene PRODH reported as likely benign for Proline dehydrogenase deficiency

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Total variants: 117
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HGVS dbSNP gnomAD frequency
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.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_016335.6(PRODH):c.21G>T (p.Leu7=) rs539772713 0.00151
NM_016335.6(PRODH):c.42T>C (p.Ile14=) rs761010757 0.00082
NM_016335.6(PRODH):c.703C>T (p.Leu235Phe) rs534685286 0.00057
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr) rs370003523 0.00036
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.1143C>T (p.Ala381=) rs560442727 0.00017
NM_016335.6(PRODH):c.1062A>G (p.Leu354=) rs376319831 0.00016
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.456C>T (p.Pro152=) rs747609336 0.00006
NM_016335.6(PRODH):c.518-11C>T rs112526442 0.00004
NM_016335.6(PRODH):c.417C>T (p.Ser139=) rs1414061185 0.00003
NM_016335.6(PRODH):c.1251+10C>T rs755799435 0.00002
NM_016335.6(PRODH):c.468G>A (p.Glu156=) rs749195093 0.00002
NM_016335.6(PRODH):c.1427+8G>T rs765272958 0.00001
NM_016335.6(PRODH):c.1659C>T (p.Pro553=) rs778275329 0.00001
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.1021C>T (p.Leu341=)
NM_016335.6(PRODH):c.1071C>G (p.Thr357=)
NM_016335.6(PRODH):c.1098G>T (p.Leu366=) rs2146211029
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.1105-9G>A
NM_016335.6(PRODH):c.1127G>A (p.Arg376Gln)
NM_016335.6(PRODH):c.1152C>G (p.Thr384=)
NM_016335.6(PRODH):c.1164G>A (p.Pro388=) rs773989059
NM_016335.6(PRODH):c.1182G>C (p.Thr394=)
NM_016335.6(PRODH):c.123G>A (p.Gly41=)
NM_016335.6(PRODH):c.1251+7C>T
NM_016335.6(PRODH):c.129C>G (p.Ala43=)
NM_016335.6(PRODH):c.1344C>G (p.Ala448=)
NM_016335.6(PRODH):c.1386C>A (p.Pro462=)
NM_016335.6(PRODH):c.1395C>T (p.Pro465=)
NM_016335.6(PRODH):c.1413C>T (p.Asn471=)
NM_016335.6(PRODH):c.1427+20C>G
NM_016335.6(PRODH):c.1428-15T>C
NM_016335.6(PRODH):c.1464C>T (p.Asn488=)
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.1527-9C>T
NM_016335.6(PRODH):c.1611G>A (p.Pro537=)
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.1632C>T (p.Pro544=)
NM_016335.6(PRODH):c.1644C>T (p.Tyr548=)
NM_016335.6(PRODH):c.1674G>A (p.Leu558=)
NM_016335.6(PRODH):c.1704C>T (p.Asn568=)
NM_016335.6(PRODH):c.1758C>T (p.Leu586=)
NM_016335.6(PRODH):c.18C>A (p.Ala6=)
NM_016335.6(PRODH):c.18C>T (p.Ala6=)
NM_016335.6(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.6(PRODH):c.21G>C (p.Leu7=)
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.270G>A (p.Glu90=) rs562699700
NM_016335.6(PRODH):c.273+16G>A
NM_016335.6(PRODH):c.336C>T (p.Thr112=)
NM_016335.6(PRODH):c.357C>T (p.Ala119=)
NM_016335.6(PRODH):c.369G>A (p.Gln123=)
NM_016335.6(PRODH):c.408C>T (p.Phe136=) rs143311513
NM_016335.6(PRODH):c.456C>G (p.Pro152=)
NM_016335.6(PRODH):c.482+13C>T
NM_016335.6(PRODH):c.482+15G>A
NM_016335.6(PRODH):c.483-10C>T
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.54C>T (p.Val18=) rs1032634465
NM_016335.6(PRODH):c.561C>T (p.Phe187=)
NM_016335.6(PRODH):c.57G>A (p.Pro19=) rs1479974810
NM_016335.6(PRODH):c.609C>T (p.Ala203=)
NM_016335.6(PRODH):c.612T>C (p.Asn204=)
NM_016335.6(PRODH):c.668-5G>A
NM_016335.6(PRODH):c.69G>T (p.Ala23=)
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.804G>A (p.Ala268=) rs1174381102
NM_016335.6(PRODH):c.81C>A (p.Arg27=)
NM_016335.6(PRODH):c.829C>T (p.Leu277=)
NM_016335.6(PRODH):c.849+16_849+17del rs2146213055
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.891T>A (p.Ile297=)
NM_016335.6(PRODH):c.90C>T (p.Pro30=) rs2146224247
NM_016335.6(PRODH):c.929+12C>G
NM_016335.6(PRODH):c.930-14G>A
NM_016335.6(PRODH):c.933C>T (p.Thr311=)
NM_016335.6(PRODH):c.972G>A (p.Arg324=)
NM_016335.6(PRODH):c.981G>A (p.Leu327=)

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