ClinVar Miner

List of variants studied for amino acid metabolism disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 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_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter) rs748129702 0.00001
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu) rs1197105310 0.00001
NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs) rs773497189 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000045.4(ARG1):c.30del (p.Ile11fs) rs1773467460
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000137.4(FAH):c.82_83del (p.Pro28fs) rs1595889891
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.899C>T (p.Pro300Leu) rs759979499
NM_000274.4(OAT):c.980C>G (p.Pro327Arg) rs1589698958
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
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_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) rs1312955440
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001034853.2(RPGR):c.983del (p.Gly328fs) rs1555965107
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter) rs1582928662
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys) rs1771988273
NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs) rs1582249186
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) rs768837125
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly) rs1596390679
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg) rs796052033
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly) rs1563983313
NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs) rs1278053918
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
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_014270.5(SLC7A9):c.968C>T (p.Thr323Ile) rs1968692991
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) rs777889289
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) rs1555794210
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) rs1600356790
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) rs2073703461
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_016247.4(IMPG2):c.1826del (p.Val609fs) rs1553681433
NM_016247.4(IMPG2):c.85+2T>A rs1553687118
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
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.10388-1G>C rs1553261478
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.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.4(USH2A):c.8558+5G>A rs746331566

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