ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00044
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
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.314G>A (p.Arg105His) rs756353660 0.00016
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.*29C>A rs202172391 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
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.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
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.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 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.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
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.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 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.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 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.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 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.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His) rs147068247 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 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.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000083.3(CLCN1):c.-59C>A
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala) rs368958317
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=) rs372034290
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg) rs1586507590
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.1550A>T (p.Tyr517Phe)
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) rs1563084603
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg) rs2116373216
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1930+3C>G
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn) rs1554438576
NM_000083.3(CLCN1):c.194A>G (p.His65Arg)
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu)
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis) rs2116396889
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg)
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) rs1563090152
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile)
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile) rs1064796042
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=) rs1803411706
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys) rs1803416147
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs) rs778865730
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp) rs769391461
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg) rs1302735361
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.586A>T (p.Thr196Ser) rs1802442547
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)
NM_000083.3(CLCN1):c.638T>G (p.Val213Gly)
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu)
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.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu)
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala) rs1586489367
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.853+5G>A
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn)
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met) rs140664749

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