List of variants in gene CLCN1 reported as uncertain significance by Ambry Genetics

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: 59

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser)	rs143075418	0.00034
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)	rs139262486	0.00031
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)	rs756353660	0.00016
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)	rs112282456	0.00013
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)	rs969430772	0.00009
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser)	rs140536210	0.00008
NM_000083.3(CLCN1):c.2662C>T (p.Arg888Trp)	rs781320829	0.00005
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu)	rs149188892	0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser)	rs747078264	0.00005
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val)	rs146453561	0.00004
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser)	rs774199742	0.00004
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)	rs201327261	0.00003
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	rs767366093	0.00003
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)	rs200536855	0.00003
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser)	rs117661165	0.00003
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val)	rs145280046	0.00003
NM_000083.3(CLCN1):c.553C>A (p.Gln185Lys)	rs540699776	0.00003
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)	rs143009041	0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)	rs777708543	0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)	rs1554434802	0.00002
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)	rs1682810737	0.00001
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)	rs1256013991	0.00001
NM_000083.3(CLCN1):c.117T>G (p.Asn39Lys)	rs755414284	0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr)	rs368276618	0.00001
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)	rs747166328	0.00001
NM_000083.3(CLCN1):c.1681G>A (p.Val561Met)	rs1304963998	0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg)	rs755433272	0.00001
NM_000083.3(CLCN1):c.2813C>T (p.Pro938Leu)	rs370887921	0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)	rs140726900	0.00001
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)	rs1306254920	0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg)	rs1802432204	0.00001
NM_000083.3(CLCN1):c.1103T>A (p.Leu368Gln)
NM_000083.3(CLCN1):c.1120C>A (p.Leu374Ile)	rs1482388640
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)	rs201714423
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro)	rs868831424
NM_000083.3(CLCN1):c.1307A>T (p.His436Leu)	rs2487064855
NM_000083.3(CLCN1):c.148G>A (p.Ala50Thr)	rs762996741
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn)	rs756490905
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)	rs1803111177
NM_000083.3(CLCN1):c.2129T>C (p.Phe710Ser)	rs1803221791
NM_000083.3(CLCN1):c.2536C>T (p.Leu846Phe)
NM_000083.3(CLCN1):c.2758G>A (p.Gly920Arg)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)	rs1448219970
NM_000083.3(CLCN1):c.2857G>A (p.Glu953Lys)
NM_000083.3(CLCN1):c.2959A>G (p.Ile987Val)
NM_000083.3(CLCN1):c.326T>C (p.Val109Ala)	rs1586484297
NM_000083.3(CLCN1):c.364G>A (p.Val122Met)	rs528823552
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp)	rs1435631505
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)	rs764015801
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg)	rs1409574232
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)	rs774525961
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met)	rs980845093
NM_000083.3(CLCN1):c.625A>G (p.Met209Val)
NM_000083.3(CLCN1):c.647T>C (p.Val216Ala)	rs2116838639
NM_000083.3(CLCN1):c.715G>A (p.Ala239Thr)
NM_000083.3(CLCN1):c.731C>T (p.Ala244Val)
NM_000083.3(CLCN1):c.838G>T (p.Gly280Trp)	rs80190110
NM_000083.3(CLCN1):c.860T>G (p.Leu287Arg)	rs1266327660
NM_000083.3(CLCN1):c.931T>C (p.Phe311Leu)	rs2487057588

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