List of variants reported as likely pathogenic for amino acid metabolism disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	rs768445391	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_001080442.3(SLC38A8):c.806-3C>G	rs1057516193	0.00003
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)	rs1197105310	0.00001
NM_000045.4(ARG1):c.30del (p.Ile11fs)	rs1773467460
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn)	rs1970720537
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)	rs746274670
NM_000274.4(OAT):c.980C>G (p.Pro327Arg)	rs1589698958
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)	rs1602783564
NM_000539.3(RHO):c.328T>G (p.Cys110Gly)	rs1578278438
NM_000554.6(CRX):c.898T>C (p.Ter300Gln)	rs1599992745
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	rs796051938
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)	rs1572829010
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr)	rs768837125
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)	rs796052033
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)	rs1466787789
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)	rs1585569717
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)	rs1573592033
NM_006915.3(RP2):c.758del (p.Leu253fs)	rs1602347992
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu)	rs761628767
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)	rs12150890
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)	rs554196965
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)	rs1600356790
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)	rs2073703461
NM_016373.4(WWOX):c.606-1G>A	rs730882215
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)	rs749758687
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)	rs1060499715
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	rs398124575
NM_201548.5(CERKL):c.677+547G>A	rs1044562973
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val)	rs1419157426
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)	rs1360258103
NM_206933.4(USH2A):c.8558+5G>A	rs746331566

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