ClinVar Miner

List of variants in gene CHM reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1437dup (p.Glu480fs) rs1057517717 0.00005
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604 0.00001
NC_000023.10:g.(?_85115185)_(85303566_?)del
NC_000023.10:g.(?_85119615)_(85302556_?)del
NC_000023.10:g.(?_85119635)_(85119846_?)del
NC_000023.10:g.(?_85119635)_(85149309_?)del
NC_000023.10:g.(?_85119635)_(85223644_?)del
NC_000023.10:g.(?_85119635)_(85236833_?)del
NC_000023.10:g.(?_85119635)_(85302634_?)del
NC_000023.10:g.(?_85119635)_(85302644_?)del
NC_000023.10:g.(?_85128037)_(85128237_?)del
NC_000023.10:g.(?_85133986)_(85163188_?)del
NC_000023.10:g.(?_85149173)_(85166363_?)del
NC_000023.10:g.(?_85149183)_(85149299_?)del
NC_000023.10:g.(?_85166246)_(85166363_?)del
NC_000023.10:g.(?_85166246)_(85236833_?)del
NC_000023.10:g.(?_85211138)_(85211403_?)del
NC_000023.10:g.(?_85211138)_(85236833_?)del
NC_000023.10:g.(?_85211138)_(85302644_?)del
NC_000023.10:g.(?_85212840)_(85214002_?)del
NC_000023.10:g.(?_85218650)_(85223644_?)del
NC_000023.10:g.(?_85233751)_(85233915_?)del
NC_000023.10:g.(?_85233751)_(85302644_?)del
NC_000023.10:g.(?_85282475)_(85282581_?)del
NC_000023.10:g.(?_85282475)_(85302644_?)del
NC_000023.10:g.(?_85302468)_(85302644_?)del
NC_000023.10:g.(?_85302488)_(85302536_?)del
NC_000023.10:g.(?_85302494)_(85308932_?)del
NC_000023.11:g.(?_85864630)_(85911338_?)del
NC_000023.11:g.(?_85878965)_(85903741_?)del
NC_000023.11:g.(?_86027491)_(86047532_?)del
NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) rs1057517714
NM_000390.4(CHM):c.1031del (p.Thr344fs)
NM_000390.4(CHM):c.1035dup (p.Glu346fs)
NM_000390.4(CHM):c.103del (p.Leu35fs)
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) rs1929999634
NM_000390.4(CHM):c.1095del (p.Arg367fs)
NM_000390.4(CHM):c.1113_1114del (p.Pro372fs) rs2147663011
NM_000390.4(CHM):c.1138C>T (p.Gln380Ter) rs886041181
NM_000390.4(CHM):c.1153C>T (p.Gln385Ter) rs2147662919
NM_000390.4(CHM):c.1153del (p.Gln385fs)
NM_000390.4(CHM):c.1153dup (p.Gln385fs) rs2147662931
NM_000390.4(CHM):c.115dup (p.Ser39fs)
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1160del (p.Phe387fs)
NM_000390.4(CHM):c.1166+1G>A
NM_000390.4(CHM):c.1166+1G>C rs2147662906
NM_000390.4(CHM):c.1166+2T>G rs2147662902
NM_000390.4(CHM):c.1167-2A>G rs2148169033
NM_000390.4(CHM):c.1194T>G (p.Tyr398Ter) rs1465232657
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) rs1057517715
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1234G>T (p.Glu412Ter) rs1927009899
NM_000390.4(CHM):c.1237_1243del (p.Ser413fs) rs2148168763
NM_000390.4(CHM):c.1244+1G>A
NM_000390.4(CHM):c.1244+2T>A
NM_000390.4(CHM):c.1245-1G>T rs1926267493
NM_000390.4(CHM):c.1245-2A>G rs2148154378
NM_000390.4(CHM):c.1264C>T (p.Gln422Ter)
NM_000390.4(CHM):c.126C>A (p.Tyr42Ter)
NM_000390.4(CHM):c.126C>G (p.Tyr42Ter) rs1931628708
NM_000390.4(CHM):c.1273C>T (p.Gln425Ter) rs1926263167
NM_000390.4(CHM):c.1277_1278del (p.Arg426fs)
NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)
NM_000390.4(CHM):c.130G>T (p.Gly44Ter) rs886041175
NM_000390.4(CHM):c.1315_1318dup (p.Pro440fs)
NM_000390.4(CHM):c.1327_1328del (p.Met443fs)
NM_000390.4(CHM):c.1334C>G (p.Ser445Ter) rs1057520629
NM_000390.4(CHM):c.1336del (p.Arg446fs) rs1926253608
NM_000390.4(CHM):c.133G>T (p.Gly45Ter) rs1057520765
NM_000390.4(CHM):c.1340_1341del (p.Val447fs) rs2148154145
NM_000390.4(CHM):c.1342C>T (p.Gln448Ter) rs1057517716
NM_000390.4(CHM):c.1349+1G>T
NM_000390.4(CHM):c.1351C>T (p.Gln451Ter) rs1603244482
NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) rs1926208868
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1359del (p.Arg454fs) rs1926208868
NM_000390.4(CHM):c.1363del (p.Ala455fs) rs1926208067
NM_000390.4(CHM):c.1369del (p.Val456_Leu457insTer) rs1926207659
NM_000390.4(CHM):c.1370T>C (p.Leu457Pro) rs2148153507
NM_000390.4(CHM):c.1399_1400del (p.Asp467fs)
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_000390.4(CHM):c.1403C>G (p.Ser468Ter)
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) rs1926202704
NM_000390.4(CHM):c.1413+1G>A rs1926202120
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1414-1G>A rs2148144372
NM_000390.4(CHM):c.1414-1G>T
NM_000390.4(CHM):c.141G>A (p.Trp47Ter) rs1931627432
NM_000390.4(CHM):c.1424del (p.Ile474_Leu475insTer)
NM_000390.4(CHM):c.1465_1510+677delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG rs2148143198
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1484C>G (p.Ser495Ter)
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1505_1506del (p.Gly502fs)
NM_000390.4(CHM):c.1511-1G>A
NM_000390.4(CHM):c.1511-1G>T
NM_000390.4(CHM):c.1511-2A>G rs1924597556
NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT (p.Thr511delinsIlePheTer) rs1924595442
NM_000390.4(CHM):c.1532del (p.Thr511fs) rs2148126477
NM_000390.4(CHM):c.1565C>A (p.Ser522Ter) rs2148126425
NM_000390.4(CHM):c.1565C>G (p.Ser522Ter) rs2148126425
NM_000390.4(CHM):c.1569del (p.Val524fs) rs2148126410
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1594_1601dup (p.Met534fs)
NM_000390.4(CHM):c.1603G>T (p.Glu535Ter)
NM_000390.4(CHM):c.1609+2T>A rs1556217900
NM_000390.4(CHM):c.1613del (p.Asn538fs) rs2148120711
NM_000390.4(CHM):c.1624del (p.Glu542fs)
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) rs1924195176
NM_000390.4(CHM):c.1648_1660del (p.Ala549_Leu550insTer)
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1653C>A (p.Tyr551Ter) rs2148120627
NM_000390.4(CHM):c.1660_1661del (p.Met554fs) rs2148120607
NM_000390.4(CHM):c.1663A>T (p.Arg555Ter) rs2148120604
NM_000390.4(CHM):c.166_167del (p.Leu56fs)
NM_000390.4(CHM):c.1670C>A (p.Ser557Ter) rs775176173
NM_000390.4(CHM):c.1674del (p.Asp559fs)
NM_000390.4(CHM):c.167T>A (p.Leu56Ter) rs2147712442
NM_000390.4(CHM):c.1680_1681insTAACAGACATATAAC (p.Ser561Ter) rs1924190333
NM_000390.4(CHM):c.1695T>A (p.Tyr565Ter)
NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter) rs764025364
NM_000390.4(CHM):c.1695dup (p.Asn566Ter) rs1702025708
NM_000390.4(CHM):c.1697_1698del (p.Asn566fs)
NM_000390.4(CHM):c.1718_1719del (p.Tyr573fs) rs1924186486
NM_000390.4(CHM):c.1733del (p.Pro578fs)
NM_000390.4(CHM):c.1762_1765del (p.Val588fs)
NM_000390.4(CHM):c.1770+1G>C
NM_000390.4(CHM):c.1771-1G>A rs1556191599
NM_000390.4(CHM):c.1775_1814del (p.Glu592fs) rs2148112023
NM_000390.4(CHM):c.189+1G>A
NM_000390.4(CHM):c.189+1G>C rs1931625021
NM_000390.4(CHM):c.189+1G>T
NM_000390.4(CHM):c.190-2A>G rs774941511
NM_000390.4(CHM):c.194del (p.Asn65fs)
NM_000390.4(CHM):c.19del (p.Ser7fs)
NM_000390.4(CHM):c.20C>A (p.Ser7Ter)
NM_000390.4(CHM):c.224G>A (p.Trp75Ter) rs1931440274
NM_000390.4(CHM):c.226C>T (p.Gln76Ter) rs1931439989
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.235_236del (p.Ile79fs) rs1931438937
NM_000390.4(CHM):c.242_245del (p.Glu81fs) rs2147706541
NM_000390.4(CHM):c.262_263dup (p.Ser89fs) rs1931435688
NM_000390.4(CHM):c.283_284del (p.Ile95fs) rs2147706405
NM_000390.4(CHM):c.286C>T (p.Gln96Ter) rs1931431411
NM_000390.4(CHM):c.295G>T (p.Glu99Ter) rs2147706381
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.309T>G (p.Tyr103Ter) rs897855683
NM_000390.4(CHM):c.312del (p.Ser105fs)
NM_000390.4(CHM):c.315-4587T>A rs1930707138
NM_000390.4(CHM):c.41dup (p.Gly15fs) rs1555972050
NM_000390.4(CHM):c.42_47delinsGGGAA (p.Ile14fs) rs1603288794
NM_000390.4(CHM):c.46_49dup (p.Gly17fs)
NM_000390.4(CHM):c.49+1G>A
NM_000390.4(CHM):c.49+1G>C
NM_000390.4(CHM):c.49+1G>T rs886041174
NM_000390.4(CHM):c.49+3A>G rs2147818976
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000390.4(CHM):c.50-1G>C rs1933881504
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.525del (p.Glu177fs)
NM_000390.4(CHM):c.529dup (p.Glu177fs)
NM_000390.4(CHM):c.534del (p.Glu179fs)
NM_000390.4(CHM):c.535_536del (p.Glu179fs)
NM_000390.4(CHM):c.546T>A (p.Cys182Ter)
NM_000390.4(CHM):c.549_557delinsAGTTTTCT (p.Asp183fs)
NM_000390.4(CHM):c.561T>A (p.Cys187Ter)
NM_000390.4(CHM):c.563_564del (p.Val188fs)
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.569C>A (p.Ser190Ter)
NM_000390.4(CHM):c.569C>G (p.Ser190Ter) rs1360735193
NM_000390.4(CHM):c.575C>A (p.Ser192Ter)
NM_000390.4(CHM):c.586_587del (p.Met196fs) rs2147675634
NM_000390.4(CHM):c.599_600del (p.Val200fs)
NM_000390.4(CHM):c.616dup (p.Thr206fs) rs2147675545
NM_000390.4(CHM):c.634A>T (p.Lys212Ter) rs781053852
NM_000390.4(CHM):c.641_642del (p.Arg214fs) rs2147675445
NM_000390.4(CHM):c.645del (p.Thr216fs) rs1930416163
NM_000390.4(CHM):c.647_648insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGAATTAC (p.Thr216_Tyr217insAlaGlyArgGlyGlySerArgLeuTer)
NM_000390.4(CHM):c.649_652del (p.Tyr217fs) rs886043716
NM_000390.4(CHM):c.650dup (p.Tyr217Ter)
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.660dup (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.692del (p.Asp230_Leu231insTer)
NM_000390.4(CHM):c.698C>G (p.Ser233Ter)
NM_000390.4(CHM):c.700A>T (p.Lys234Ter) rs2147675263
NM_000390.4(CHM):c.704del (p.Leu235fs) rs2147667658
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.744del (p.Lys248fs)
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000390.4(CHM):c.768del (p.Glu256fs) rs2147667424
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.816del (p.Glu272fs) rs2147667298
NM_000390.4(CHM):c.817C>T (p.Gln273Ter) rs2147667288
NM_000390.4(CHM):c.819+1G>A rs1603263147
NM_000390.4(CHM):c.819+2T>G rs1930141997
NM_000390.4(CHM):c.819G>T (p.Gln273His)
NM_000390.4(CHM):c.820-1G>C rs1930090887
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.82del (p.Ser28fs)
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
NM_000390.4(CHM):c.866_867dup (p.Val290fs) rs1556307648
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.898dup (p.Thr300fs)
NM_000390.4(CHM):c.910G>T (p.Glu304Ter) rs2147665683
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter) rs758669355
NM_000390.4(CHM):c.934del (p.Tyr312fs) rs1930083443
NM_000390.4(CHM):c.940+1G>A
NM_000390.4(CHM):c.940+1G>C rs1930082852
NM_000390.4(CHM):c.940+1G>T rs1930082852
NM_000390.4(CHM):c.940+2T>C rs2147665632
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.941-2A>G rs2147663521
NM_000390.4(CHM):c.949G>T (p.Glu317Ter)
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.969T>A (p.Tyr323Ter) rs886041180
NM_000390.4(CHM):c.971T>A (p.Leu324Ter)
NM_000390.4(CHM):c.971T>G (p.Leu324Ter) rs1930006988
NM_000390.4(CHM):c.971del (p.Tyr323_Leu324insTer) rs2147663406
NM_000390.4(CHM):c.979C>T (p.Gln327Ter) rs2147663380
NM_000390.4(CHM):c.983_984del (p.Lys328fs)
NM_000390.4(CHM):c.984del (p.Lys328fs) rs2147663370
NM_000390.4(CHM):c.993del (p.Asn332fs) rs2147663351

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