ClinVar Miner

List of variants in gene PRODH studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_016335.5(PRODH):c.1006G>A (p.Ala336Thr) rs1160517835
NM_016335.5(PRODH):c.1093G>A (p.Val365Ile) rs768237039
NM_016335.5(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.5(PRODH):c.1173C>T (p.Ser391=) rs3970556
NM_016335.5(PRODH):c.1217C>T (p.Pro406Leu) rs3970555
NM_016335.5(PRODH):c.1279G>A (p.Val427Met) rs2238731
NM_016335.5(PRODH):c.1292G>A (p.Arg431His) rs2904552
NM_016335.5(PRODH):c.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1362G>A (p.Ala454=) rs2238730
NM_016335.5(PRODH):c.1363G>T (p.Ala455Ser) rs1807467
NM_016335.5(PRODH):c.1374C>A (p.Gly458=) rs2904550
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.5(PRODH):c.1440C>T (p.Tyr480=) rs5992333
NM_016335.5(PRODH):c.1463A>G (p.Asn488Ser) rs139903009
NM_016335.5(PRODH):c.14G>A (p.Arg5His) rs549947897
NM_016335.5(PRODH):c.172G>A (p.Ala58Thr) rs146648839
NM_016335.5(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.5(PRODH):c.23C>T (p.Pro8Leu) rs181332931
NM_016335.5(PRODH):c.391C>T (p.Arg131Trp) rs753625227
NM_016335.5(PRODH):c.417C>T (p.Ser139=) rs1414061185
NM_016335.5(PRODH):c.42T>C (p.Ile14=) rs761010757
NM_016335.5(PRODH):c.553= (p.Trp185=) rs4819756
NM_016335.5(PRODH):c.554G>A (p.Trp185Ter) rs11913840
NM_016335.5(PRODH):c.650G>A (p.Arg217His) rs148375080
NM_016335.5(PRODH):c.80G>T (p.Arg27Leu) rs1411529753
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)
NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly) rs193919334
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347

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