ClinVar Miner

List of variants studied for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 479
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-5C>T
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
NM_000282.4(PCCA):c.-4A>C
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
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.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001370658.1(BTD):c.-45A>T
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1188C>T (p.His396=)
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_002225.5(IVD):c.-48G>A rs114259808
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.235-18G>A rs78272986
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.60G>T (p.Pro20=)
NM_002225.5(IVD):c.784+9C>T
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.803A>G (p.His268Arg)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.870G>T (p.Gly290=)
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863
NM_015702.3(MMADHC):c.10-9C>G
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.455C>G (p.Thr152Arg) rs146795035
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_022132.5(MCCC2):c.*6A>G
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1488+3C>T rs374049769
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1574+5G>T
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.196+3A>G
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.584+6A>G
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574
NM_172250.3(MMAA):c.-4G>A
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
NM_172250.3(MMAA):c.734-7A>G
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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