ClinVar Miner

List of variants studied for Deficiency of pyrroline-5-carboxylate reductase by Invitae

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Total variants: 42
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HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr) rs150762865
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707

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