List of variants in gene CLCN1 reported as pathogenic by Athena Diagnostics Inc

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: 41

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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.501C>G (p.Phe167Leu)	rs149729531	0.00075
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.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.774+1G>A	rs776073429	0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)	rs80356687	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.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	rs770900468	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.2364+2T>A	rs886041384	0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)	rs748639603	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.1183_1187del (p.Gly395fs)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)	rs763633152
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
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.1925C>G (p.Ser642Ter)	rs1803112361
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)	rs755176513
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.870C>G (p.Ile290Met)	rs80356690
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)	rs1554436419
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)	rs1337473924

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