List of variants reported as benign for Proline dehydrogenase deficiency

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Total variants: 46

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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.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.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.1562G>A (p.Arg521Gln)	rs450046	0.00287
NM_016335.6(PRODH):c.1265A>G (p.Asn422Ser)	rs144751631	0.00220
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)	rs3970555	0.00149
NM_016335.6(PRODH):c.517+19C>T	rs370155847	0.00088
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.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.1560C>T (p.His520=)	rs142972542	0.00033
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.1065G>A (p.Gln355=)	rs546571456	0.00017
NM_016335.6(PRODH):c.1105-14C>T	rs1076466
NM_016335.6(PRODH):c.1515T>C (p.Phe505=)	rs455072
NM_016335.6(PRODH):c.1623C>G (p.Ala541=)	rs16983347
NM_016335.6(PRODH):c.19C>T (p.Leu7=)
NM_016335.6(PRODH):c.553_554inv (p.Trp185Gln)
NM_016335.6(PRODH):c.733-5del	rs3216765
NM_016335.6(PRODH):c.824C>A (p.Thr275Asn)	rs5747933
NM_016335.6(PRODH):c.849+45del	rs5844366
NM_016335.6(PRODH):c.930-15C>T	rs201272622

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