ClinVar Miner

List of variants in gene PRODH reported as uncertain significance 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: 15
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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.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.5(PRODH):c.391C>T (p.Arg131Trp) rs753625227
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)

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