ClinVar Miner

List of variants reported as benign for amino acid metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156 0.02124
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_021831.6(AGBL5):c.2046T>A (p.Ser682=) rs34931609 0.01806
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_012418.4(FSCN2):c.381G>A (p.Pro127=) rs34454351 0.01717
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309 0.01415
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=) rs34910192 0.01216
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser) rs146886270 0.01035
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_016335.6(PRODH):c.1252-14C>T rs189009057 0.00073
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_000276.4(OCRL):c.2582-9G>A rs2071705 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576

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