ClinVar Miner

List of variants reported as pathogenic for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) rs757481015 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) rs778647317 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.830dup (p.Cys277fs) rs140026363 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) rs1279658001 0.00001
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) rs1360333956 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) rs1319653705 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) rs376321837 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.789del (p.Ser264fs) rs770081373 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.854-2A>G rs1802699135 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NC_000007.13:g.(?_143013209)_(143049107_?)del
NC_000007.13:g.(?_143013306)_(143013505_?)del
NC_000007.13:g.(?_143013350)_(143018251_?)del
NC_000007.13:g.(?_143013355)_(143018256_?)del
NC_000007.13:g.(?_143027845)_(143028765_?)del
NC_000007.13:g.(?_143029321)_(143029798_?)del
NC_000007.13:g.(?_143039002)_(143044062_?)del
NC_000007.13:g.(?_143042594)_(143044062_?)del
NC_000007.13:g.(?_143047445)_(143049058_?)del
NC_000007.14:g.(?_143324401)_(143331662_?)del
NC_000007.14:g.(?_143345501)_(143350674_?)del
NC_000007.14:g.143323310del rs1423567292
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1038_1039del (p.Glu347fs)
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1111del (p.Gln371fs)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) rs2116855121
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)
NM_000083.3(CLCN1):c.1280del (p.Leu427fs)
NM_000083.3(CLCN1):c.1281del (p.Leu427fs) rs2116855161
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) rs1802763171
NM_000083.3(CLCN1):c.1310_1311del (p.Ala437fs)
NM_000083.3(CLCN1):c.1347del (p.Val448_Trp449insTer)
NM_000083.3(CLCN1):c.1357del (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1401+1G>A rs769861892
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter)
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) rs80356694
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1471+1G>T
NM_000083.3(CLCN1):c.1472-2A>G rs2116865174
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1562_1563del (p.Pro521fs)
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter)
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe)
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.174del (p.Thr59fs)
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) rs2116373517
NM_000083.3(CLCN1):c.1849del (p.Ser617fs)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) rs1237554305
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) rs2116374801
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.198del (p.Glu67fs)
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)
NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) rs2116834548
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter)
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs) rs2116384782
NM_000083.3(CLCN1):c.2149del (p.Glu717fs)
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2172+1G>C
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) rs1803238026
NM_000083.3(CLCN1):c.2271_2272del (p.Pro758fs)
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2343del (p.Thr782fs)
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter)
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter)
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) rs755343536
NM_000083.3(CLCN1):c.2524del (p.Ser842fs)
NM_000083.3(CLCN1):c.2565del (p.Lys856fs)
NM_000083.3(CLCN1):c.2581del (p.Leu861fs) rs2116397821
NM_000083.3(CLCN1):c.2595+1G>A rs2116397860
NM_000083.3(CLCN1):c.2612del (p.Glu871fs)
NM_000083.3(CLCN1):c.2655dup (p.Ser886fs)
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)
NM_000083.3(CLCN1):c.2683_2686del (p.Lys895fs)
NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2784_2785del (p.Glu928fs)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2821_2822del (p.Ser941fs)
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.354G>A (p.Gly118=)
NM_000083.3(CLCN1):c.360del (p.Leu121fs) rs2116836321
NM_000083.3(CLCN1):c.36del (p.Glu12fs)
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.431dup (p.Ala145fs)
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.434-55_464del
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) rs2116837535
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter)
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.475del (p.Leu159fs) rs1802428440
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) rs1586485406
NM_000083.3(CLCN1):c.50_434-202del
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg)
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter) rs1563074540
NM_000083.3(CLCN1):c.61del (p.Gln21fs)
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
NM_000083.3(CLCN1):c.642del (p.Lys215fs)
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.751del (p.Ser251fs) rs1586487826
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) rs2116842799
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) rs1266327660
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) rs1802702190
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)
NM_000083.3(CLCN1):c.989dup (p.Ala331fs) rs1383055795
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) rs138922145

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