ClinVar Miner

List of variants reported as likely benign for Mucolipidosis type IV

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 559
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HGVS dbSNP gnomAD frequency
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_006702.5(PNPLA6):c.-214C>T rs141371215 0.01588
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_020533.3(MCOLN1):c.680+14A>T rs151281315 0.00709
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00078
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn) rs141168886 0.00065
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val) rs142259322 0.00046
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=) rs148187755 0.00043
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00042
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=) rs139922988 0.00024
NM_020533.3(MCOLN1):c.1359+13C>T rs143068910 0.00022
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=) rs147455130 0.00020
NM_020533.3(MCOLN1):c.1360-16G>A rs367955829 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_020533.3(MCOLN1):c.365G>A (p.Arg122Gln) rs371444491 0.00016
NM_020533.3(MCOLN1):c.572-8G>A rs373636467 0.00015
NM_020533.3(MCOLN1):c.878-4G>A rs201492918 0.00015
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_020533.3(MCOLN1):c.1197G>T (p.Val399=) rs200208762 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633 0.00013
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile) rs771026953 0.00011
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=) rs146187044 0.00011
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=) rs886527724 0.00011
NM_020533.3(MCOLN1):c.681-15G>A rs371978455 0.00010
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=) rs201232288 0.00009
NM_020533.3(MCOLN1):c.213C>T (p.Val71=) rs201157863 0.00009
NM_020533.3(MCOLN1):c.1434C>T (p.Ala478=) rs772184395 0.00008
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=) rs749335667 0.00007
NM_020533.3(MCOLN1):c.414G>A (p.Ala138=) rs780538809 0.00007
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.1135-18C>T rs780085697 0.00006
NM_020533.3(MCOLN1):c.1392G>A (p.Leu464=) rs376391975 0.00006
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=) rs747365638 0.00006
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) rs567995024 0.00006
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) rs200484869 0.00006
NM_020533.3(MCOLN1):c.1044G>A (p.Leu348=) rs367994498 0.00005
NM_020533.3(MCOLN1):c.1191G>A (p.Val397=) rs781393542 0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_020533.3(MCOLN1):c.90G>A (p.Pro30=) rs773313990 0.00005
NM_020533.3(MCOLN1):c.915C>T (p.Val305=) rs578062566 0.00005
NM_020533.3(MCOLN1):c.1135-5C>T rs748490777 0.00004
NM_020533.3(MCOLN1):c.1149C>T (p.Tyr383=) rs376777270 0.00004
NM_020533.3(MCOLN1):c.1575+10A>C rs771168805 0.00004
NM_020533.3(MCOLN1):c.1575+7C>T rs201375224 0.00004
NM_020533.3(MCOLN1):c.1575+8G>A rs372482475 0.00004
NM_020533.3(MCOLN1):c.1576-5C>A rs775755004 0.00004
NM_020533.3(MCOLN1):c.159C>T (p.Cys53=) rs776845391 0.00004
NM_020533.3(MCOLN1):c.1608G>A (p.Glu536=) rs750094891 0.00004
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=) rs760559591 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.297C>T (p.Ile99=) rs904906326 0.00004
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=) rs747386198 0.00004
NM_020533.3(MCOLN1):c.507C>T (p.Tyr169=) rs896210352 0.00004
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=) rs201211905 0.00004
NM_020533.3(MCOLN1):c.571+16G>A rs201521719 0.00004
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=) rs754263664 0.00004
NM_020533.3(MCOLN1):c.984+13C>T rs376284815 0.00004
NM_020533.3(MCOLN1):c.1239C>A (p.Ile413=) rs756352586 0.00003
NM_020533.3(MCOLN1):c.1428G>A (p.Thr476=) rs774352633 0.00003
NM_020533.3(MCOLN1):c.480C>T (p.Gly160=) rs1474264968 0.00003
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619 0.00003
NM_020533.3(MCOLN1):c.753G>A (p.Pro251=) rs756314123 0.00003
NM_020533.3(MCOLN1):c.778-15A>T rs772579928 0.00003
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) rs535003448 0.00002
NM_020533.3(MCOLN1):c.1119C>T (p.Ile373=) rs765687408 0.00002
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=) rs755029960 0.00002
NM_020533.3(MCOLN1):c.1237-12G>A rs763017059 0.00002
NM_020533.3(MCOLN1):c.135C>G (p.Leu45=) rs775399085 0.00002
NM_020533.3(MCOLN1):c.1554C>T (p.Thr518=) rs745680669 0.00002
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=) rs140151993 0.00002
NM_020533.3(MCOLN1):c.1698C>T (p.Cys566=) rs772896139 0.00002
NM_020533.3(MCOLN1):c.273G>A (p.Val91=) rs750262188 0.00002
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=) rs150008188 0.00002
NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val) rs201374540 0.00002
NM_020533.3(MCOLN1):c.406-7C>T rs547369700 0.00002
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=) rs374412302 0.00002
NM_020533.3(MCOLN1):c.537C>T (p.Asn179=) rs376002658 0.00002
NM_020533.3(MCOLN1):c.813C>T (p.Ile271=) rs1005655619 0.00002
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg) rs183077397 0.00002
NM_020533.3(MCOLN1):c.861C>T (p.Pro287=) rs759571499 0.00002
NM_020533.3(MCOLN1):c.906C>T (p.Asp302=) rs769304283 0.00002
NM_020533.3(MCOLN1):c.*8T>C rs751699944 0.00001
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=) rs929597481 0.00001
NM_020533.3(MCOLN1):c.1083C>T (p.Ser361=) rs911853632 0.00001
NM_020533.3(MCOLN1):c.1125C>T (p.Ile375=) rs762560191 0.00001
NM_020533.3(MCOLN1):c.1135-4G>A rs201876708 0.00001
NM_020533.3(MCOLN1):c.1143G>A (p.Ala381=) rs749784466 0.00001
NM_020533.3(MCOLN1):c.117A>G (p.Glu39=) rs750910015 0.00001
NM_020533.3(MCOLN1):c.1237-19T>C rs2022624616 0.00001
NM_020533.3(MCOLN1):c.1245C>T (p.Ile415=) rs1302332702 0.00001
NM_020533.3(MCOLN1):c.1254G>T (p.Leu418=) rs779390455 0.00001
NM_020533.3(MCOLN1):c.1263C>T (p.Ala421=) rs779383350 0.00001
NM_020533.3(MCOLN1):c.1293C>T (p.Cys431=) rs766358820 0.00001
NM_020533.3(MCOLN1):c.1398G>A (p.Ser466=) rs1319588522 0.00001
NM_020533.3(MCOLN1):c.1413C>T (p.Asp471=) rs199756902 0.00001
NM_020533.3(MCOLN1):c.1455C>A (p.Gly485=) rs1332132536 0.00001
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=) rs1453967813 0.00001
NM_020533.3(MCOLN1):c.1461C>T (p.Ser487=) rs766701393 0.00001
NM_020533.3(MCOLN1):c.1467G>A (p.Leu489=) rs751972886 0.00001
NM_020533.3(MCOLN1):c.1470G>A (p.Val490=) rs1381086540 0.00001
NM_020533.3(MCOLN1):c.1506C>A (p.Ile502=) rs142388236 0.00001
NM_020533.3(MCOLN1):c.1533C>T (p.Ser511=) rs2022639670 0.00001
NM_020533.3(MCOLN1):c.1542C>T (p.Ile514=) rs777203448 0.00001
NM_020533.3(MCOLN1):c.1545G>A (p.Ala515=) rs756898791 0.00001
NM_020533.3(MCOLN1):c.1576-18C>T rs534380558 0.00001
NM_020533.3(MCOLN1):c.1581C>T (p.Pro527=) rs900817572 0.00001
NM_020533.3(MCOLN1):c.1599G>A (p.Glu533=) rs539750700 0.00001
NM_020533.3(MCOLN1):c.1623C>T (p.Ile541=) rs1393848749 0.00001
NM_020533.3(MCOLN1):c.1638C>T (p.Asp546=) rs759755939 0.00001
NM_020533.3(MCOLN1):c.1659C>T (p.Phe553=) rs1400006231 0.00001
NM_020533.3(MCOLN1):c.1677G>C (p.Ser559=) rs775876795 0.00001
NM_020533.3(MCOLN1):c.1683C>T (p.Cys561=) rs776990695 0.00001
NM_020533.3(MCOLN1):c.1706+7G>T rs1179098814 0.00001
NM_020533.3(MCOLN1):c.1707-6C>T rs1206401144 0.00001
NM_020533.3(MCOLN1):c.1707-7C>T rs371588106 0.00001
NM_020533.3(MCOLN1):c.1734G>T (p.Leu578=) rs561495897 0.00001
NM_020533.3(MCOLN1):c.183C>G (p.Arg61=) rs754565497 0.00001
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=) rs1182165362 0.00001
NM_020533.3(MCOLN1):c.18T>G (p.Gly6=) rs1348144589 0.00001
NM_020533.3(MCOLN1):c.222G>A (p.Leu74=) rs770748705 0.00001
NM_020533.3(MCOLN1):c.228C>T (p.Val76=) rs1441079209 0.00001
NM_020533.3(MCOLN1):c.249T>C (p.Phe83=) rs2022568652 0.00001
NM_020533.3(MCOLN1):c.255C>T (p.Leu85=) rs2022568798 0.00001
NM_020533.3(MCOLN1):c.303C>T (p.Phe101=) rs1444483937 0.00001
NM_020533.3(MCOLN1):c.309C>T (p.His103=) rs1226555529 0.00001
NM_020533.3(MCOLN1):c.32-12C>A rs1372906524 0.00001
NM_020533.3(MCOLN1):c.351C>T (p.Phe117=) rs377692216 0.00001
NM_020533.3(MCOLN1):c.363G>A (p.Thr121=) rs758222055 0.00001
NM_020533.3(MCOLN1):c.373C>T (p.Leu125=) rs1372371793 0.00001
NM_020533.3(MCOLN1):c.406-17C>G rs753901478 0.00001
NM_020533.3(MCOLN1):c.406-6C>T rs528669009 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.48G>C (p.Leu16=) rs776627554 0.00001
NM_020533.3(MCOLN1):c.498C>T (p.Cys166=) rs937781548 0.00001
NM_020533.3(MCOLN1):c.504G>A (p.Arg168=) rs750573419 0.00001
NM_020533.3(MCOLN1):c.510C>T (p.Tyr170=) rs758675462 0.00001
NM_020533.3(MCOLN1):c.51C>T (p.Thr17=) rs1334031081 0.00001
NM_020533.3(MCOLN1):c.522C>T (p.His174=) rs747359059 0.00001
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=) rs773903184 0.00001
NM_020533.3(MCOLN1):c.609G>A (p.Pro203=) rs987069104 0.00001
NM_020533.3(MCOLN1):c.618C>T (p.Ser206=) rs200644134 0.00001
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=) rs774271399 0.00001
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe) rs576022241 0.00001
NM_020533.3(MCOLN1):c.633C>G (p.Leu211=) rs775690240 0.00001
NM_020533.3(MCOLN1):c.654C>T (p.Tyr218=) rs757685298 0.00001
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=) rs757935075 0.00001
NM_020533.3(MCOLN1):c.680+7C>T rs746650613 0.00001
NM_020533.3(MCOLN1):c.768C>T (p.Phe256=) rs1317895184 0.00001
NM_020533.3(MCOLN1):c.777+13G>A rs775042317 0.00001
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=) rs746629838 0.00001
NM_020533.3(MCOLN1):c.81G>A (p.Gly27=) rs372370104 0.00001
NM_020533.3(MCOLN1):c.840C>T (p.His280=) rs766269225 0.00001
NM_020533.3(MCOLN1):c.878-10C>T rs572407593 0.00001
NM_020533.3(MCOLN1):c.878-5C>T rs750663104 0.00001
NM_020533.3(MCOLN1):c.942C>T (p.Leu314=) rs773993490 0.00001
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=) rs759397627 0.00001
NM_020533.3(MCOLN1):c.984+10C>T rs2022609476 0.00001
NM_020533.3(MCOLN1):c.99G>A (p.Pro33=) rs760801246 0.00001
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=) rs1164919725
NM_020533.3(MCOLN1):c.1014G>T (p.Arg338=)
NM_020533.3(MCOLN1):c.1026C>T (p.Ile342=) rs1296290253
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=) rs566285864
NM_020533.3(MCOLN1):c.1056T>C (p.Asn352=) rs2146024789
NM_020533.3(MCOLN1):c.1059C>G (p.Gly353=) rs2146024794
NM_020533.3(MCOLN1):c.105C>A (p.Pro35=)
NM_020533.3(MCOLN1):c.1071G>A (p.Leu357=)
NM_020533.3(MCOLN1):c.1075G>A (p.Val359Ile)
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1080C>T (p.Thr360=)
NM_020533.3(MCOLN1):c.1101G>A (p.Ser367=)
NM_020533.3(MCOLN1):c.1107C>T (p.Thr369=) rs895301824
NM_020533.3(MCOLN1):c.1110C>T (p.Ile370=) rs376754721
NM_020533.3(MCOLN1):c.1116G>A (p.Lys372=) rs1256912872
NM_020533.3(MCOLN1):c.1131C>A (p.Ala377=) rs2146024862
NM_020533.3(MCOLN1):c.1134+14A>G
NM_020533.3(MCOLN1):c.1134+16A>G
NM_020533.3(MCOLN1):c.1134+20T>C
NM_020533.3(MCOLN1):c.1134+8C>T
NM_020533.3(MCOLN1):c.1135-11C>T
NM_020533.3(MCOLN1):c.1135-14G>A rs2022615978
NM_020533.3(MCOLN1):c.1135-16C>T
NM_020533.3(MCOLN1):c.1135-17G>A
NM_020533.3(MCOLN1):c.1135-20G>A
NM_020533.3(MCOLN1):c.1135-4G>T
NM_020533.3(MCOLN1):c.1135-8A>G rs1599255224
NM_020533.3(MCOLN1):c.1135-9C>G
NM_020533.3(MCOLN1):c.1137C>T (p.Asn379=)
NM_020533.3(MCOLN1):c.114G>A (p.Glu38=) rs757653601
NM_020533.3(MCOLN1):c.1167C>T (p.Leu389=)
NM_020533.3(MCOLN1):c.1173C>T (p.Gly391=)
NM_020533.3(MCOLN1):c.1176C>T (p.Thr392=) rs2146025006
NM_020533.3(MCOLN1):c.1182G>C (p.Thr394=) rs755029960
NM_020533.3(MCOLN1):c.1188G>A (p.Leu396=)
NM_020533.3(MCOLN1):c.1188G>T (p.Leu396=)
NM_020533.3(MCOLN1):c.1203G>C (p.Val401=) rs2146025049
NM_020533.3(MCOLN1):c.120C>T (p.Asp40=) rs768172824
NM_020533.3(MCOLN1):c.1213C>T (p.Leu405=) rs915699870
NM_020533.3(MCOLN1):c.1215G>C (p.Leu405=)
NM_020533.3(MCOLN1):c.1224C>T (p.Phe408=)
NM_020533.3(MCOLN1):c.1227C>T (p.His409=) rs1417929030
NM_020533.3(MCOLN1):c.1236+11C>T
NM_020533.3(MCOLN1):c.1236+13C>T
NM_020533.3(MCOLN1):c.1236+20C>T
NM_020533.3(MCOLN1):c.1237-10C>T rs770530839
NM_020533.3(MCOLN1):c.1237-12G>C
NM_020533.3(MCOLN1):c.1237-14C>G
NM_020533.3(MCOLN1):c.1242C>T (p.Leu414=) rs2146025420
NM_020533.3(MCOLN1):c.1247C>T (p.Ala416Val)
NM_020533.3(MCOLN1):c.1263C>G (p.Ala421=)
NM_020533.3(MCOLN1):c.1264C>T (p.Leu422=) rs62111282
NM_020533.3(MCOLN1):c.1266G>A (p.Leu422=)
NM_020533.3(MCOLN1):c.1266G>T (p.Leu422=)
NM_020533.3(MCOLN1):c.1269C>G (p.Pro423=) rs776281877
NM_020533.3(MCOLN1):c.1269C>T (p.Pro423=) rs776281877
NM_020533.3(MCOLN1):c.1284C>T (p.Phe428=)
NM_020533.3(MCOLN1):c.1296G>T (p.Val432=)
NM_020533.3(MCOLN1):c.1299T>C (p.Ala433=)
NM_020533.3(MCOLN1):c.129T>C (p.Arg43=)
NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=)
NM_020533.3(MCOLN1):c.1308C>T (p.Tyr436=)
NM_020533.3(MCOLN1):c.1309C>T (p.Leu437=)
NM_020533.3(MCOLN1):c.1311G>C (p.Leu437=)
NM_020533.3(MCOLN1):c.1314C>A (p.Gly438=)
NM_020533.3(MCOLN1):c.1326T>C (p.Cys442=) rs1439656162
NM_020533.3(MCOLN1):c.1329C>T (p.Gly443=) rs2146025487
NM_020533.3(MCOLN1):c.132T>C (p.Arg44=)
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=) rs764352100
NM_020533.3(MCOLN1):c.1338G>T (p.Val446=)
NM_020533.3(MCOLN1):c.1344G>A (p.Gly448=)
NM_020533.3(MCOLN1):c.1344G>C (p.Gly448=) rs1568399908
NM_020533.3(MCOLN1):c.1347C>T (p.Pro449=)
NM_020533.3(MCOLN1):c.1359+10A>G
NM_020533.3(MCOLN1):c.1359+11C>T
NM_020533.3(MCOLN1):c.1359+12C>A
NM_020533.3(MCOLN1):c.1359+14C>G
NM_020533.3(MCOLN1):c.1359+15del
NM_020533.3(MCOLN1):c.1359+7C>A rs2146025528
NM_020533.3(MCOLN1):c.1359+7_1359+8dup rs528289665
NM_020533.3(MCOLN1):c.1359+8T>G rs2146025533
NM_020533.3(MCOLN1):c.1360-14C>T
NM_020533.3(MCOLN1):c.1360-16G>T
NM_020533.3(MCOLN1):c.1360-17C>A
NM_020533.3(MCOLN1):c.1360-17C>G
NM_020533.3(MCOLN1):c.1360-17C>T
NM_020533.3(MCOLN1):c.1360-9C>G rs2146025974
NM_020533.3(MCOLN1):c.1365C>T (p.Arg455=)
NM_020533.3(MCOLN1):c.1371C>A (p.Leu457=) rs1460653024
NM_020533.3(MCOLN1):c.1380G>A (p.Val460=) rs2146025999
NM_020533.3(MCOLN1):c.1390C>T (p.Leu464=) rs2022637355
NM_020533.3(MCOLN1):c.1404C>T (p.Ile468=)
NM_020533.3(MCOLN1):c.1410G>T (p.Gly470=)
NM_020533.3(MCOLN1):c.1422T>C (p.Phe474=) rs2146026029
NM_020533.3(MCOLN1):c.1425G>C (p.Val475=) rs1232905791
NM_020533.3(MCOLN1):c.1446G>A (p.Ala482=) rs998552423
NM_020533.3(MCOLN1):c.1446G>T (p.Ala482=)
NM_020533.3(MCOLN1):c.144T>C (p.Phe48=)
NM_020533.3(MCOLN1):c.1457G>A (p.Arg486His)
NM_020533.3(MCOLN1):c.1458C>T (p.Arg486=)
NM_020533.3(MCOLN1):c.1465C>T (p.Leu489=)
NM_020533.3(MCOLN1):c.1476C>G (p.Leu492=)
NM_020533.3(MCOLN1):c.1479C>T (p.Phe493=)
NM_020533.3(MCOLN1):c.1485G>A (p.Gln495=) rs2146026119
NM_020533.3(MCOLN1):c.1494T>A (p.Leu498=)
NM_020533.3(MCOLN1):c.1512C>G (p.Leu504=)
NM_020533.3(MCOLN1):c.1518C>T (p.Ile506=)
NM_020533.3(MCOLN1):c.1548C>T (p.Leu516=) rs530169769
NM_020533.3(MCOLN1):c.1566C>T (p.Asp522=) rs1214443140
NM_020533.3(MCOLN1):c.1569C>G (p.Thr523=) rs2022640470
NM_020533.3(MCOLN1):c.1569C>T (p.Thr523=) rs2022640470
NM_020533.3(MCOLN1):c.1572C>T (p.Ile524=) rs2146026201
NM_020533.3(MCOLN1):c.1575+10A>G rs771168805
NM_020533.3(MCOLN1):c.1575+17C>T
NM_020533.3(MCOLN1):c.1575+7C>A rs201375224
NM_020533.3(MCOLN1):c.1575+8G>C rs372482475
NM_020533.3(MCOLN1):c.1575+8G>T
NM_020533.3(MCOLN1):c.1575+9C>T
NM_020533.3(MCOLN1):c.1576-13C>A
NM_020533.3(MCOLN1):c.1576-13C>T
NM_020533.3(MCOLN1):c.1576-15G>A
NM_020533.3(MCOLN1):c.1576-15G>C
NM_020533.3(MCOLN1):c.1576-16C>G
NM_020533.3(MCOLN1):c.1576-16C>T
NM_020533.3(MCOLN1):c.1576-17C>T
NM_020533.3(MCOLN1):c.1576-20C>G
NM_020533.3(MCOLN1):c.1576-20C>T
NM_020533.3(MCOLN1):c.1576-3dup rs762591325
NM_020533.3(MCOLN1):c.1576-4C>A
NM_020533.3(MCOLN1):c.1576-4C>G rs761220466
NM_020533.3(MCOLN1):c.1576-5C>T rs775755004
NM_020533.3(MCOLN1):c.1576-6C>A
NM_020533.3(MCOLN1):c.1576-6C>T rs1425980750
NM_020533.3(MCOLN1):c.1576-7T>C rs202183736
NM_020533.3(MCOLN1):c.1587C>T (p.Gly529=) rs940473084
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) rs2022699936
NM_020533.3(MCOLN1):c.15G>C (p.Ala5=)
NM_020533.3(MCOLN1):c.1620C>T (p.Tyr540=)
NM_020533.3(MCOLN1):c.1626A>C (p.Ala542=)
NM_020533.3(MCOLN1):c.1626A>G (p.Ala542=)
NM_020533.3(MCOLN1):c.1632C>T (p.Cys544=) rs2146030069
NM_020533.3(MCOLN1):c.1644C>T (p.Pro548=)
NM_020533.3(MCOLN1):c.1665C>T (p.Arg555=) rs1180978786
NM_020533.3(MCOLN1):c.1668G>C (p.Gly556=) rs2146030162
NM_020533.3(MCOLN1):c.1674C>T (p.Gly558=)
NM_020533.3(MCOLN1):c.1680C>G (p.Ala560=) rs747365638
NM_020533.3(MCOLN1):c.1692C>G (p.Leu564=) rs2146030255
NM_020533.3(MCOLN1):c.1692C>T (p.Leu564=) rs2146030255
NM_020533.3(MCOLN1):c.1701C>T (p.Cys567=)
NM_020533.3(MCOLN1):c.1706+10C>T
NM_020533.3(MCOLN1):c.1706+13G>A
NM_020533.3(MCOLN1):c.1706+14dup
NM_020533.3(MCOLN1):c.1706+15T>A
NM_020533.3(MCOLN1):c.1707-11C>T
NM_020533.3(MCOLN1):c.1707-13T>G
NM_020533.3(MCOLN1):c.1707-14C>T rs541186661
NM_020533.3(MCOLN1):c.1707-17C>T
NM_020533.3(MCOLN1):c.1707-18C>T
NM_020533.3(MCOLN1):c.1707-19C>G
NM_020533.3(MCOLN1):c.1713C>A (p.Pro571=)
NM_020533.3(MCOLN1):c.1713C>T (p.Pro571=)
NM_020533.3(MCOLN1):c.1728G>T (p.Ser576=)
NM_020533.3(MCOLN1):c.1732C>T (p.Leu578=)
NM_020533.3(MCOLN1):c.195G>A (p.Lys65=)
NM_020533.3(MCOLN1):c.198G>C (p.Leu66=) rs747815510
NM_020533.3(MCOLN1):c.198G>T (p.Leu66=)
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=) rs1481445686
NM_020533.3(MCOLN1):c.207A>G (p.Gln69=)
NM_020533.3(MCOLN1):c.210G>A (p.Val70=) rs2022550937
NM_020533.3(MCOLN1):c.213C>G (p.Val71=) rs201157863
NM_020533.3(MCOLN1):c.219C>T (p.Ile73=)
NM_020533.3(MCOLN1):c.21G>T (p.Pro7=)
NM_020533.3(MCOLN1):c.225G>A (p.Val75=)
NM_020533.3(MCOLN1):c.231G>A (p.Thr77=) rs961311202
NM_020533.3(MCOLN1):c.231G>C (p.Thr77=)
NM_020533.3(MCOLN1):c.234G>A (p.Val78=) rs1599252438
NM_020533.3(MCOLN1):c.237+15G>A
NM_020533.3(MCOLN1):c.237+16C>A
NM_020533.3(MCOLN1):c.237+16C>T
NM_020533.3(MCOLN1):c.237+18G>A
NM_020533.3(MCOLN1):c.237+8_237+9insG rs1452359151
NM_020533.3(MCOLN1):c.238-10C>G rs2146022369
NM_020533.3(MCOLN1):c.238-12C>A
NM_020533.3(MCOLN1):c.238-12C>T
NM_020533.3(MCOLN1):c.238-16A>G
NM_020533.3(MCOLN1):c.238-4C>T rs1247052207
NM_020533.3(MCOLN1):c.238-5C>T
NM_020533.3(MCOLN1):c.24C>A (p.Arg8=)
NM_020533.3(MCOLN1):c.252G>A (p.Gly84=) rs2146022404
NM_020533.3(MCOLN1):c.252G>T (p.Gly84=) rs2146022404
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=) rs554380139
NM_020533.3(MCOLN1):c.280C>A (p.Arg94=) rs142665651
NM_020533.3(MCOLN1):c.291C>T (p.Asn97=) rs1217132484
NM_020533.3(MCOLN1):c.297C>A (p.Ile99=)
NM_020533.3(MCOLN1):c.31+10C>T
NM_020533.3(MCOLN1):c.31+13G>A
NM_020533.3(MCOLN1):c.31+13_31+32dup
NM_020533.3(MCOLN1):c.31+14C>T
NM_020533.3(MCOLN1):c.31+19C>T
NM_020533.3(MCOLN1):c.31+20C>T
NM_020533.3(MCOLN1):c.31+4_31+6dup rs2146019220
NM_020533.3(MCOLN1):c.31+9G>A rs2022513285
NM_020533.3(MCOLN1):c.318G>C (p.Leu106=)
NM_020533.3(MCOLN1):c.32-14T>G
NM_020533.3(MCOLN1):c.32-15C>T
NM_020533.3(MCOLN1):c.32-17C>A
NM_020533.3(MCOLN1):c.32-5C>G
NM_020533.3(MCOLN1):c.32-7C>G
NM_020533.3(MCOLN1):c.32-7C>T
NM_020533.3(MCOLN1):c.32-9T>C
NM_020533.3(MCOLN1):c.330G>C (p.Ser110=) rs373174724
NM_020533.3(MCOLN1):c.345C>T (p.Asp115=) rs1431995988
NM_020533.3(MCOLN1):c.360C>T (p.Tyr120=)
NM_020533.3(MCOLN1):c.36C>G (p.Thr12=) rs148187755
NM_020533.3(MCOLN1):c.375G>A (p.Leu125=)
NM_020533.3(MCOLN1):c.378C>T (p.Tyr126=)
NM_020533.3(MCOLN1):c.381G>A (p.Gln127=)
NM_020533.3(MCOLN1):c.393T>C (p.His131=) rs1196075625
NM_020533.3(MCOLN1):c.39G>A (p.Glu13=)
NM_020533.3(MCOLN1):c.405+13_405+30del rs1475127440
NM_020533.3(MCOLN1):c.405+17A>C
NM_020533.3(MCOLN1):c.405+19G>A
NM_020533.3(MCOLN1):c.405+23_405+58del
NM_020533.3(MCOLN1):c.405+23_406-61del rs2146022564
NM_020533.3(MCOLN1):c.405+31_406-71del rs2146022588
NM_020533.3(MCOLN1):c.405+61T>C rs1374334837
NM_020533.3(MCOLN1):c.405+64G>T rs2022573795
NM_020533.3(MCOLN1):c.405+8_405+9del
NM_020533.3(MCOLN1):c.406-10C>T rs2022576080
NM_020533.3(MCOLN1):c.406-12del
NM_020533.3(MCOLN1):c.406-15C>T
NM_020533.3(MCOLN1):c.406-18C>T
NM_020533.3(MCOLN1):c.406-20C>T
NM_020533.3(MCOLN1):c.406-4A>G rs1382589726
NM_020533.3(MCOLN1):c.406-5C>T
NM_020533.3(MCOLN1):c.408C>T (p.Tyr136=) rs746077436
NM_020533.3(MCOLN1):c.40C>A (p.Arg14=)
NM_020533.3(MCOLN1):c.414G>T (p.Ala138=) rs780538809
NM_020533.3(MCOLN1):c.432G>A (p.Leu144=)
NM_020533.3(MCOLN1):c.438G>A (p.Arg146=)
NM_020533.3(MCOLN1):c.444G>T (p.Ala148=)
NM_020533.3(MCOLN1):c.447T>C (p.Tyr149=)
NM_020533.3(MCOLN1):c.459G>C (p.Gly153=)
NM_020533.3(MCOLN1):c.45T>G (p.Leu15=)
NM_020533.3(MCOLN1):c.465C>T (p.Asp155=) rs2146022844
NM_020533.3(MCOLN1):c.46C>T (p.Leu16=)
NM_020533.3(MCOLN1):c.477T>C (p.Asn159=)
NM_020533.3(MCOLN1):c.483A>G (p.Ser161=) rs2146022857
NM_020533.3(MCOLN1):c.495C>G (p.Leu165=)
NM_020533.3(MCOLN1):c.519C>G (p.Gly173=) rs2146022898
NM_020533.3(MCOLN1):c.528C>T (p.Asp176=)
NM_020533.3(MCOLN1):c.543A>G (p.Thr181=) rs2146022923
NM_020533.3(MCOLN1):c.54C>T (p.Pro18=)
NM_020533.3(MCOLN1):c.571+12G>C
NM_020533.3(MCOLN1):c.571+14A>G
NM_020533.3(MCOLN1):c.571+15C>G
NM_020533.3(MCOLN1):c.571+15C>T
NM_020533.3(MCOLN1):c.571+19G>A
NM_020533.3(MCOLN1):c.572-11C>G
NM_020533.3(MCOLN1):c.572-15A>C
NM_020533.3(MCOLN1):c.572-17T>C
NM_020533.3(MCOLN1):c.572-18C>G
NM_020533.3(MCOLN1):c.572-5C>G
NM_020533.3(MCOLN1):c.572-9T>C
NM_020533.3(MCOLN1):c.573C>T (p.Asp191=) rs2146023426
NM_020533.3(MCOLN1):c.576C>T (p.Cys192=)
NM_020533.3(MCOLN1):c.57C>T (p.Asn19=) rs765306710
NM_020533.3(MCOLN1):c.585G>A (p.Val195=) rs753009764
NM_020533.3(MCOLN1):c.585G>T (p.Val195=)
NM_020533.3(MCOLN1):c.594C>G (p.Pro198=) rs377757971
NM_020533.3(MCOLN1):c.594C>T (p.Pro198=) rs377757971
NM_020533.3(MCOLN1):c.597G>A (p.Glu199=) rs2146023464
NM_020533.3(MCOLN1):c.598C>A (p.Arg200=)
NM_020533.3(MCOLN1):c.600G>T (p.Arg200=) rs2022589520
NM_020533.3(MCOLN1):c.603C>T (p.Pro201=) rs2146023479
NM_020533.3(MCOLN1):c.609G>T (p.Pro203=) rs987069104
NM_020533.3(MCOLN1):c.60C>G (p.Pro20=)
NM_020533.3(MCOLN1):c.615C>T (p.Pro205=) rs1244521625
NM_020533.3(MCOLN1):c.627C>A (p.Leu209=) rs2146023555
NM_020533.3(MCOLN1):c.627C>T (p.Leu209=)
NM_020533.3(MCOLN1):c.639A>G (p.Glu213=) rs1302834128
NM_020533.3(MCOLN1):c.63G>T (p.Gly21=) rs754263664
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=) rs2146023575
NM_020533.3(MCOLN1):c.660C>T (p.Asn220=)
NM_020533.3(MCOLN1):c.663C>T (p.Leu221=)
NM_020533.3(MCOLN1):c.66T>C (p.Tyr22=) rs2146021205
NM_020533.3(MCOLN1):c.678C>T (p.His226=) rs2146023608
NM_020533.3(MCOLN1):c.680+10G>A rs2146023626
NM_020533.3(MCOLN1):c.680+13C>T
NM_020533.3(MCOLN1):c.680+17C>T
NM_020533.3(MCOLN1):c.680+18G>A
NM_020533.3(MCOLN1):c.680+19A>C
NM_020533.3(MCOLN1):c.680+20G>C
NM_020533.3(MCOLN1):c.681-12C>A
NM_020533.3(MCOLN1):c.681-12C>T
NM_020533.3(MCOLN1):c.681-16C>T
NM_020533.3(MCOLN1):c.681-18C>G
NM_020533.3(MCOLN1):c.681-18C>T
NM_020533.3(MCOLN1):c.681-7T>G
NM_020533.3(MCOLN1):c.682C>T (p.Leu228=)
NM_020533.3(MCOLN1):c.690T>C (p.Asn230=)
NM_020533.3(MCOLN1):c.6A>G (p.Thr2=) rs2146019165
NM_020533.3(MCOLN1):c.702C>T (p.His234=)
NM_020533.3(MCOLN1):c.705C>T (p.Phe235=) rs2022595761
NM_020533.3(MCOLN1):c.711G>C (p.Leu237=) rs2146023938
NM_020533.3(MCOLN1):c.717C>A (p.Thr239=)
NM_020533.3(MCOLN1):c.717C>G (p.Thr239=)
NM_020533.3(MCOLN1):c.723C>T (p.Asn241=) rs758402044
NM_020533.3(MCOLN1):c.744T>C (p.Asn248=)
NM_020533.3(MCOLN1):c.750C>T (p.Ile250=)
NM_020533.3(MCOLN1):c.753G>C (p.Pro251=) rs756314123
NM_020533.3(MCOLN1):c.765C>T (p.Thr255=) rs2146023990
NM_020533.3(MCOLN1):c.771C>T (p.Ser257=) rs113261161
NM_020533.3(MCOLN1):c.777+10C>G rs746372828
NM_020533.3(MCOLN1):c.777+10C>T rs746372828
NM_020533.3(MCOLN1):c.777+12C>G
NM_020533.3(MCOLN1):c.777+12C>T
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.777+19C>G
NM_020533.3(MCOLN1):c.777+20C>T
NM_020533.3(MCOLN1):c.777+7C>A
NM_020533.3(MCOLN1):c.777+7C>G
NM_020533.3(MCOLN1):c.777+7C>T
NM_020533.3(MCOLN1):c.777+8C>T rs1371041607
NM_020533.3(MCOLN1):c.778-10G>A
NM_020533.3(MCOLN1):c.778-14del
NM_020533.3(MCOLN1):c.778-16C>T
NM_020533.3(MCOLN1):c.778-17C>A
NM_020533.3(MCOLN1):c.778-4A>G
NM_020533.3(MCOLN1):c.778-5C>A
NM_020533.3(MCOLN1):c.778-5C>T rs1307955596
NM_020533.3(MCOLN1):c.778-6C>T rs2146024174
NM_020533.3(MCOLN1):c.778-9C>T
NM_020533.3(MCOLN1):c.780C>T (p.Ile260=)
NM_020533.3(MCOLN1):c.78G>T (p.Ala26=) rs746629838
NM_020533.3(MCOLN1):c.798A>G (p.Ala266=)
NM_020533.3(MCOLN1):c.804T>C (p.Ser268=)
NM_020533.3(MCOLN1):c.807G>A (p.Gly269=) rs2146024202
NM_020533.3(MCOLN1):c.810G>T (p.Arg270=)
NM_020533.3(MCOLN1):c.81G>T (p.Gly27=) rs372370104
NM_020533.3(MCOLN1):c.822C>T (p.Ser274=)
NM_020533.3(MCOLN1):c.825G>C (p.Leu275=)
NM_020533.3(MCOLN1):c.846G>A (p.Gln282=) rs2022600463
NM_020533.3(MCOLN1):c.858C>T (p.His286=) rs1295237494
NM_020533.3(MCOLN1):c.877+10T>A
NM_020533.3(MCOLN1):c.877+11G>A
NM_020533.3(MCOLN1):c.877+7C>A
NM_020533.3(MCOLN1):c.877+7C>T
NM_020533.3(MCOLN1):c.878-13G>T
NM_020533.3(MCOLN1):c.878-14T>G
NM_020533.3(MCOLN1):c.878-15C>T
NM_020533.3(MCOLN1):c.878-17C>T
NM_020533.3(MCOLN1):c.878-18G>A
NM_020533.3(MCOLN1):c.878-18_878-10del
NM_020533.3(MCOLN1):c.878-20C>A
NM_020533.3(MCOLN1):c.878-8C>T rs2146024511
NM_020533.3(MCOLN1):c.897C>G (p.Leu299=) rs781689314
NM_020533.3(MCOLN1):c.898C>T (p.Leu300=) rs1257662413
NM_020533.3(MCOLN1):c.900G>C (p.Leu300=)
NM_020533.3(MCOLN1):c.909G>C (p.Val303=)
NM_020533.3(MCOLN1):c.933G>A (p.Leu311=) rs966716196
NM_020533.3(MCOLN1):c.93C>T (p.Ala31=) rs1599252290
NM_020533.3(MCOLN1):c.945C>T (p.Leu315=) rs1230119281
NM_020533.3(MCOLN1):c.954C>T (p.Arg318=)
NM_020533.3(MCOLN1):c.957A>G (p.Ser319=) rs1208758395
NM_020533.3(MCOLN1):c.957A>T (p.Ser319=)
NM_020533.3(MCOLN1):c.960C>T (p.Leu320=)
NM_020533.3(MCOLN1):c.966A>T (p.Arg322=) rs61736600
NM_020533.3(MCOLN1):c.969C>T (p.Gly323=) rs2146024586
NM_020533.3(MCOLN1):c.975G>C (p.Leu325=) rs2146024591
NM_020533.3(MCOLN1):c.978G>A (p.Leu326=) rs2146024595
NM_020533.3(MCOLN1):c.984+11T>C
NM_020533.3(MCOLN1):c.984+11T>G
NM_020533.3(MCOLN1):c.984+13C>G
NM_020533.3(MCOLN1):c.984+14G>A rs370661580
NM_020533.3(MCOLN1):c.984+16C>T
NM_020533.3(MCOLN1):c.984+17A>T
NM_020533.3(MCOLN1):c.984+18T>C
NM_020533.3(MCOLN1):c.984+19G>A
NM_020533.3(MCOLN1):c.984+8T>C rs2146024612
NM_020533.3(MCOLN1):c.984+8T>G
NM_020533.3(MCOLN1):c.985-15G>A
NM_020533.3(MCOLN1):c.985-15G>C rs199860642
NM_020533.3(MCOLN1):c.985-16C>T
NM_020533.3(MCOLN1):c.985-19C>T
NM_020533.3(MCOLN1):c.985-9C>T
NM_020533.3(MCOLN1):c.996G>T (p.Gly332=)
NM_020533.3(MCOLN1):c.999C>T (p.Phe333=) rs2146024716
NM_020533.3(MCOLN1):c.9C>T (p.Ala3=) rs2146019172

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