List of variants reported as likely benign for amino acid metabolism disease by Mendelics

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)	rs1799958	0.20617
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	rs2229385	0.10476
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)	rs35086888	0.01867
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)	rs140776870	0.01391
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	rs73343752	0.00788
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	rs111991705	0.00667
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)	rs61755430	0.00628
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)	rs114819130	0.00617
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	rs12749581	0.00417
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)	rs148999583	0.00372
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)	rs143898031	0.00328
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)	rs34644609	0.00309
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	rs45568335	0.00163
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)	rs187327463	0.00132
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00042
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)	rs62635032	0.00029
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)	rs62640587	0.00005
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000170.3(GLDC):c.2316-6dup	rs3215923
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)	rs1356107537
NM_001609.4(ACADSB):c.1128+20_1128+26dup	rs10571424
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)	rs78599516
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)	rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)	rs747975797
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064

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