List of variants reported as benign for Hyperprolinemia type 2

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Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_003748.4(ALDH4A1):c.249+22A>G	rs941495	0.96827
NM_003748.4(ALDH4A1):c.678+75T>C	rs6426611	0.96773
NM_003748.4(ALDH4A1):c.1338+39A>G	rs7550822	0.91650
NM_003748.4(ALDH4A1):c.941-67T>C	rs6426814	0.82332
NM_003748.4(ALDH4A1):c.941-48C>T	rs6426813	0.76978
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=)	rs2230705	0.71986
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	rs2230708	0.71129
NM_003748.4(ALDH4A1):c.*763T>C	rs1138267	0.65227
NM_003748.4(ALDH4A1):c.1461-137dup	rs35163726	0.63623
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)	rs7550938	0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)	rs2230706	0.63390
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)	rs2230707	0.47295
NM_003748.4(ALDH4A1):c.1579+49C>G	rs28529092	0.45319
NM_003748.4(ALDH4A1):c.1580-22A>T	rs28700162	0.38746
NM_003748.4(ALDH4A1):c.*118G>A	rs11740	0.38688
NM_003748.4(ALDH4A1):c.*702C>T	rs3202002	0.38569
NM_003748.4(ALDH4A1):c.*712C>T	rs14311	0.25638
NM_003748.4(ALDH4A1):c.*1198A>G	rs7366541	0.24677
NM_003748.4(ALDH4A1):c.*1275A>C	rs1138333	0.24672
NM_003748.4(ALDH4A1):c.*921G>A	rs1138269	0.24248
NM_003748.4(ALDH4A1):c.*925C>T	rs1140477	0.24236
NM_003748.4(ALDH4A1):c.*1239G>C	rs1138328	0.24081
NM_003748.4(ALDH4A1):c.*444T>C	rs9117	0.18721
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	rs2230709	0.11004
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	rs6695033	0.06532
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=)	rs61749348	0.06385
NM_003748.4(ALDH4A1):c.250-17C>T	rs9426718	0.03729
NM_003748.4(ALDH4A1):c.*502A>G	rs1802783	0.03425
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)	rs146450609	0.02500
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)	rs60427141	0.01815
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)	rs61757683	0.01760
NM_003748.4(ALDH4A1):c.603+14G>A	rs79637190	0.01743
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)	rs72953172	0.01344
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)	rs41273175	0.01334
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met)	rs72936434	0.00992
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr)	rs113846237	0.00952
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=)	rs79920636	0.00496
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)	rs111291014	0.00488
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)	rs139340058	0.00417
NM_003748.4(ALDH4A1):c.1185+10G>A	rs201079601	0.00301
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)	rs145686117	0.00250
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)	rs139640415	0.00249
NM_003748.4(ALDH4A1):c.298-14C>T	rs201072479	0.00149
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)	rs41306567	0.00133
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)	rs148778436	0.00124
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)	rs147154947	0.00116
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)	rs147471420	0.00044
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)	rs145243354	0.00034
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=)	rs41310410
NM_003748.4(ALDH4A1):c.1461-109C>T	rs6665917
NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)

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