ClinVar Miner

List of variants reported as benign for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 336
Download table as spreadsheet
HGVS dbSNP
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*250C>T rs79179095
NM_000019.3(ACAT1):c.*293A>T rs73559273
NM_000019.3(ACAT1):c.*507G>A rs12271846
NM_000019.3(ACAT1):c.*555A>G rs111376037
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.*179T>G rs114728153
NM_000019.4(ACAT1):c.-15C>G rs113348145
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-28T>A rs36216231
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAZ):c.-119= rs11388353
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000255.4(MMUT):c.*1326G>A rs9381784
NM_000255.4(MMUT):c.*580A>G rs11757098
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000411.7(HLCS):c.-466A>G rs117138955
NM_000411.7(HLCS):c.-471A>G rs118091633
NM_000411.7(HLCS):c.-480-12A>G rs115866403
NM_000411.8(HLCS):c.-393+11G>T rs557368288
NM_000411.8(HLCS):c.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) rs3740165
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240
NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001081.4(CUBN):c.*872T>C
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.7706-4T>C rs374979108
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1484A>G rs78926199
NM_001352514.2(HLCS):c.*259T>C rs73398122
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.*521C>T rs9967991
NM_001352514.2(HLCS):c.*547C>T rs116526486
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.331-7111G>A rs77067023
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.4(ACADSB):c.*133C>G
NM_001609.4(ACADSB):c.*2670C>T
NM_001609.4(ACADSB):c.*3736G>T
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001698.3(AUH):c.*200A>G
NM_002225.5(IVD):c.*1208G>A
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*195C>T rs77680513
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*2285C>G rs114657778
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*2912G>A rs11557072
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*447C>G rs79191320
NM_002225.5(IVD):c.*596G>A rs115034694
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.*825C>A
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_014384.2(ACAD8):c.*168G>A rs144390733
NM_014384.2(ACAD8):c.*277C>T rs75645586
NM_014384.2(ACAD8):c.*377C>T rs74738493
NM_014384.2(ACAD8):c.1195+12C>T rs75333832
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.210+6C>T rs148089913
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.3(ACAD8):c.*190C>T
NM_014384.3(ACAD8):c.*195G>C
NM_014384.3(ACAD8):c.*202A>C
NM_014384.3(ACAD8):c.*683A>G
NM_015702.3(MMADHC):c.*126A>G rs6923
NM_015702.3(MMADHC):c.*164A>G rs147662711
NM_015702.3(MMADHC):c.*89T>C rs6742604
NM_015702.3(MMADHC):c.-49T>C rs79997772
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_018368.4(LMBRD1):c.*341C>T rs9185
NM_018368.4(LMBRD1):c.*395T>C rs80330045
NM_018368.4(LMBRD1):c.-117C>T rs550933505
NM_018368.4(LMBRD1):c.-18T>A rs202192515
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.980+11T>C rs114726590
NM_018368.4(LMBRD1):c.981-11A>T rs75847296
NM_020166.5(MCCC1):c.-24A>G rs11540930
NM_020166.5(MCCC1):c.-25C>A rs149741951
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*1466T>C
NM_022132.5(MCCC2):c.*1573C>G rs112693079
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.*593G>T rs60069076
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*1387C>T rs73568986
NM_025136.4(OPA3):c.*152G>A rs3826861
NM_025136.4(OPA3):c.*1950G>A rs4404183
NM_025136.4(OPA3):c.*2485G>A rs8106584
NM_025136.4(OPA3):c.*272G>A rs7246349
NM_025136.4(OPA3):c.*3038G>A rs73568982
NM_025136.4(OPA3):c.*3111_*3113AGC[3] rs542311224
NM_025136.4(OPA3):c.*3212G>A rs79317386
NM_025136.4(OPA3):c.*3387G>A rs3760844
NM_025136.4(OPA3):c.*3531G>T rs112899014
NM_025136.4(OPA3):c.*3722G>A rs73568973
NM_025136.4(OPA3):c.*3874G>A rs62109650
NM_025136.4(OPA3):c.*3878A>G rs79660166
NM_025136.4(OPA3):c.*3972C>T rs147972697
NM_025136.4(OPA3):c.*4132_*4136CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4318T>C rs4802261
NM_025136.4(OPA3):c.*4672G>A rs11669246
NM_025136.4(OPA3):c.*4696_*4699ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*5523G>A rs57585727
NM_025136.4(OPA3):c.*5525C>T rs117230006
NM_025136.4(OPA3):c.*577T>C rs112654759
NM_025136.4(OPA3):c.*6012A>G rs11083772
NM_025136.4(OPA3):c.*6275T>C rs74689727
NM_025136.4(OPA3):c.*638T>A rs150575877
NM_025136.4(OPA3):c.*6790T>C rs10422253
NM_025136.4(OPA3):c.*7015G>A rs112948303
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_032601.4(MCEE):c.*262G>A rs72903553
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255
NM_052845.4(MMAB):c.*1005A>G rs67432283
NM_052845.4(MMAB):c.*1230G>T rs11067231
NM_052845.4(MMAB):c.*1467C>T rs1061440
NM_052845.4(MMAB):c.*1535G>A rs34921355
NM_052845.4(MMAB):c.*1657G>A rs111869218
NM_052845.4(MMAB):c.*1729A>C rs559163901
NM_052845.4(MMAB):c.*1810G>A rs73414076
NM_052845.4(MMAB):c.*192T>C rs8228
NM_052845.4(MMAB):c.*1952T>C rs61940463
NM_052845.4(MMAB):c.*2628C>T rs73414074
NM_052845.4(MMAB):c.*2684G>C rs35145546
NM_052845.4(MMAB):c.*2701G>C rs2241201
NM_052845.4(MMAB):c.*2835T>C rs12817689
NM_052845.4(MMAB):c.*3148G>A rs11067227
NM_052845.4(MMAB):c.*3178C>A rs73414071
NM_052845.4(MMAB):c.*374T>A
NM_052845.4(MMAB):c.*376T>A rs527861371
NM_052845.4(MMAB):c.*378T>A rs66497319
NM_052845.4(MMAB):c.*380A>T rs74967596
NM_052845.4(MMAB):c.*564G>C rs56760240
NM_052845.4(MMAB):c.*625G>C rs11067233
NM_052845.4(MMAB):c.*656C>A rs11067232
NM_052845.4(MMAB):c.*721T>G rs11831226
NM_052845.4(MMAB):c.*857G>C rs877710
NM_052845.4(MMAB):c.*891C>A rs877709
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_172250.3(MMAA):c.*1782A>G rs114134771
NM_172250.3(MMAA):c.*2142T>C rs72723824
NM_172250.3(MMAA):c.*2372T>A rs74719174
NM_172250.3(MMAA):c.*2608T>C rs7699187
NM_172250.3(MMAA):c.*2658G>A rs72723825
NM_172250.3(MMAA):c.*2768A>T rs7699166
NM_172250.3(MMAA):c.*2866A>G rs17020500
NM_172250.3(MMAA):c.*306T>A rs74409983
NM_172250.3(MMAA):c.*3621G>A rs55770806
NM_172250.3(MMAA):c.*3824C>A rs72950842
NM_172250.3(MMAA):c.*4336A>G rs138752110
NM_172250.3(MMAA):c.*434C>T rs72950841
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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