List of variants in gene CLCN1 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 79

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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.1167-10T>C	rs543120965	0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=)	rs759188441	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.2518_2519del (p.Leu840fs)	rs780534566	0.00003
NM_000083.3(CLCN1):c.2596-1G>A	rs771721648	0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	rs150885084	0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	rs762754992	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.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.1261C>T (p.Arg421Cys)	rs756981034	0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	rs780834658	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.1592C>T (p.Ala531Val)	rs80356704	0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	rs80356696	0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)	rs201894078	0.00001
NM_000083.3(CLCN1):c.1930+1G>A	rs771002652	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.409T>G (p.Tyr137Asp)	rs748639603	0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)	rs770605959	0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)	rs921162119	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
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	rs756199349
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)	rs763633152
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)	rs752041565
NM_000083.3(CLCN1):c.1287del (p.Asp429fs)	rs2116855176
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)	rs1586499614
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)	rs1312002847
NM_000083.3(CLCN1):c.1457del (p.Pro486fs)	rs756538708
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	rs1460714146
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)	rs762754992
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)	rs1269268607
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)	rs1586510870
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	rs1803111906
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)	rs1803112361
NM_000083.3(CLCN1):c.2172+1G>A	rs1273524525
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter)	rs1554439817
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)	rs755176513
NM_000083.3(CLCN1):c.302-1G>A	rs529377088
NM_000083.3(CLCN1):c.378dup (p.Leu127fs)	rs1320040467
NM_000083.3(CLCN1):c.410_411delinsGGA (p.Tyr137fs)	rs2116836451
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)	rs1586484463
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
NM_000083.3(CLCN1):c.562+1G>C	rs2116837885
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.689G>A (p.Gly230Glu)	rs80356700
NM_000083.3(CLCN1):c.697-1G>A	rs773025750
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	rs139039122
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	rs1802495428
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

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