ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00127
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00066
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00042
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
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.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) rs147581794 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
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.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) rs769053787 0.00002
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr) rs769517790 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00001
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu) rs149407148 0.00001
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr) rs868113642 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn) rs1193395764 0.00001
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala) rs368958317
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1337C>T (p.Ser446Leu)
NM_000083.3(CLCN1):c.1400A>T (p.Lys467Met)
NM_000083.3(CLCN1):c.1447G>A (p.Gly483Ser)
NM_000083.3(CLCN1):c.1471+5_1471+11del rs2116864882
NM_000083.3(CLCN1):c.1474G>A (p.Ala492Thr) rs1803021137
NM_000083.3(CLCN1):c.1616C>T (p.Thr539Ile)
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1712A>G (p.Gln571Arg)
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg) rs2116373216
NM_000083.3(CLCN1):c.1883T>C (p.Leu628Pro)
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn) rs1554438576
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala) rs1226988170
NM_000083.3(CLCN1):c.2540A>T (p.His847Leu)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile) rs1064796042
NM_000083.3(CLCN1):c.2623A>G (p.Lys875Glu)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2845G>A (p.Gly949Ser)
NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly) rs150796358
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs) rs778865730
NM_000083.3(CLCN1):c.364G>A (p.Val122Met) rs528823552
NM_000083.3(CLCN1):c.401G>A (p.Ser134Asn)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala) rs2487029840
NM_000083.3(CLCN1):c.414C>G (p.Val138=) rs547184431
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn) rs2487029959
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg) rs1302735361
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.671G>A (p.Gly224Asp)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu) rs1802494610
NM_000083.3(CLCN1):c.853+5G>A rs1802529065

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