ClinVar Miner

List of variants in gene CLCN7 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.*241G>A rs559965660 0.00198
NM_001287.6(CLCN7):c.1354-7C>T rs41286691 0.00170
NM_001287.6(CLCN7):c.*1026C>A rs761591980 0.00071
NM_001287.6(CLCN7):c.1701C>T (p.Thr567=) rs143025396 0.00045
NM_001287.6(CLCN7):c.*1180G>C rs370167870 0.00036
NM_001287.6(CLCN7):c.*1248G>A rs371394735 0.00034
NM_001287.6(CLCN7):c.2154C>T (p.Phe718=) rs145775350 0.00034
NM_001287.6(CLCN7):c.*1297T>C rs556488187 0.00032
NM_001287.6(CLCN7):c.2331+12C>T rs371977822 0.00031
NM_001287.6(CLCN7):c.*1368G>A rs376131222 0.00025
NM_001287.6(CLCN7):c.212C>T (p.Pro71Leu) rs145267254 0.00025
NM_001287.6(CLCN7):c.1098+11C>G rs202234120 0.00023
NM_001287.6(CLCN7):c.411G>A (p.Thr137=) rs139649449 0.00022
NM_001287.6(CLCN7):c.*388C>T rs745852264 0.00020
NM_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00019
NM_001287.6(CLCN7):c.*543C>T rs542386664 0.00017
NM_001287.6(CLCN7):c.*996C>T rs1018535341 0.00017
NM_001287.6(CLCN7):c.*130G>A rs561217125 0.00016
NM_001287.6(CLCN7):c.*1189G>A rs886051691 0.00014
NM_001287.6(CLCN7):c.*1667C>T rs780617974 0.00014
NM_001287.6(CLCN7):c.2110C>T (p.Arg704Trp) rs375281048 0.00014
NM_001287.6(CLCN7):c.*9C>T rs773825294 0.00013
NM_001287.6(CLCN7):c.*1421G>C rs886051689 0.00012
NM_001287.6(CLCN7):c.*228C>T rs143364973 0.00012
NM_001287.6(CLCN7):c.1272G>A (p.Thr424=) rs145286036 0.00012
NM_001287.6(CLCN7):c.2214C>T (p.Ser738=) rs531105528 0.00012
NM_001287.6(CLCN7):c.*1403A>C rs886051690 0.00011
NM_001287.6(CLCN7):c.2415G>A (p.Thr805=) rs202080270 0.00011
NM_001287.6(CLCN7):c.*510G>C rs527600278 0.00010
NM_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_001287.6(CLCN7):c.521T>C (p.Phe174Ser) rs752298744 0.00009
NM_001287.6(CLCN7):c.*1607G>T rs941409246 0.00008
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_001287.6(CLCN7):c.1098+15C>T rs760916017 0.00006
NM_001287.6(CLCN7):c.1884-10C>A rs753459440 0.00006
NM_001287.6(CLCN7):c.1884-6C>T rs570339629 0.00006
NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu) rs184833329 0.00006
NM_001287.6(CLCN7):c.286-10C>T rs376717256 0.00006
NM_001287.6(CLCN7):c.351+14C>T rs886051701 0.00006
NM_001287.6(CLCN7):c.595-3C>T rs372809649 0.00006
NM_001287.6(CLCN7):c.*1573G>A rs890063151 0.00004
NM_001287.6(CLCN7):c.*216C>T rs528735755 0.00004
NM_001287.6(CLCN7):c.1038C>T (p.His346=) rs200937692 0.00004
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln) rs780959736 0.00004
NM_001287.6(CLCN7):c.1307G>A (p.Arg436Gln) rs553904081 0.00004
NM_001287.6(CLCN7):c.1986C>T (p.Pro662=) rs374264233 0.00004
NM_001287.6(CLCN7):c.564C>T (p.Leu188=) rs781074115 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_001287.6(CLCN7):c.*1017C>A rs1430382276 0.00003
NM_001287.6(CLCN7):c.*1293G>A rs529027139 0.00003
NM_001287.6(CLCN7):c.*1491C>T rs886051688 0.00003
NM_001287.6(CLCN7):c.*614G>A rs886051694 0.00003
NM_001287.6(CLCN7):c.1138G>A (p.Ala380Thr) rs553977226 0.00003
NM_001287.6(CLCN7):c.697G>A (p.Gly233Ser) rs774749842 0.00003
NM_001287.6(CLCN7):c.729C>T (p.Ala243=) rs542484303 0.00003
NM_001287.6(CLCN7):c.777C>T (p.Ala259=) rs746128123 0.00003
NM_001287.6(CLCN7):c.*1289G>A rs2038618955 0.00002
NM_001287.6(CLCN7):c.*135G>A rs1249374686 0.00002
NM_001287.6(CLCN7):c.*355C>T rs886051696 0.00002
NM_001287.6(CLCN7):c.*379C>T rs753373584 0.00002
NM_001287.6(CLCN7):c.*396G>A rs149057560 0.00002
NM_001287.6(CLCN7):c.*57C>T rs886051697 0.00002
NM_001287.6(CLCN7):c.1135A>G (p.Ile379Val) rs768971657 0.00002
NM_001287.6(CLCN7):c.285+7G>A rs372024516 0.00002
NM_001287.6(CLCN7):c.286-7C>A rs1191046309 0.00002
NM_001287.6(CLCN7):c.351+12G>A rs371035809 0.00002
NM_001287.6(CLCN7):c.*1085G>A rs1174585279 0.00001
NM_001287.6(CLCN7):c.*1330C>T rs2038617678 0.00001
NM_001287.6(CLCN7):c.*24C>T rs1361452118 0.00001
NM_001287.6(CLCN7):c.*671T>C rs1427445361 0.00001
NM_001287.6(CLCN7):c.1207C>T (p.Arg403Ter) rs200789982 0.00001
NM_001287.6(CLCN7):c.1332C>T (p.Gly444=) rs749075927 0.00001
NM_001287.6(CLCN7):c.1524G>A (p.Thr508=) rs150009847 0.00001
NM_001287.6(CLCN7):c.1705A>G (p.Ile569Val) rs753172781 0.00001
NM_001287.6(CLCN7):c.2014-5T>C rs1032878925 0.00001
NM_001287.6(CLCN7):c.2331+14G>A rs886051698 0.00001
NM_001287.6(CLCN7):c.253C>T (p.His85Tyr) rs374263832 0.00001
NM_001287.6(CLCN7):c.352-11G>A rs764398895 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001287.6(CLCN7):c.821A>G (p.Lys274Arg) rs775085622 0.00001
NM_001287.5(CLCN7):c.-81C>T rs886051704
NM_001287.6(CLCN7):c.*1143_*1144dup rs146690487
NM_001287.6(CLCN7):c.*1215C>A rs893418963
NM_001287.6(CLCN7):c.*132C>T rs764192196
NM_001287.6(CLCN7):c.*1497dup rs373942084
NM_001287.6(CLCN7):c.*1623G>T rs1451036503
NM_001287.6(CLCN7):c.*359A>G rs762306226
NM_001287.6(CLCN7):c.*414C>T rs886051695
NM_001287.6(CLCN7):c.*592G>C rs184831951
NM_001287.6(CLCN7):c.*632C>G rs751460368
NM_001287.6(CLCN7):c.*717C>A rs886051693
NM_001287.6(CLCN7):c.*797G>T rs886051692
NM_001287.6(CLCN7):c.1099-8C>T rs1188556155
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln) rs765444328
NM_001287.6(CLCN7):c.1448-15C>T rs370055983
NM_001287.6(CLCN7):c.1531G>C (p.Ala511Pro) rs2142371312
NM_001287.6(CLCN7):c.1626G>A (p.Ala542=) rs147838517
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1751T>C (p.Met584Thr)
NM_001287.6(CLCN7):c.1797+15C>G rs367688658
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.2021G>T (p.Arg674Leu) rs758816489
NM_001287.6(CLCN7):c.2028G>C (p.Gln676His) rs886051700
NM_001287.6(CLCN7):c.2030G>T (p.Gly677Val) rs2142366157
NM_001287.6(CLCN7):c.2124G>A (p.Leu708=) rs2038669299
NM_001287.6(CLCN7):c.2150G>A (p.Arg717His) rs886051699
NM_001287.6(CLCN7):c.285+8T>C rs2038938204
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg) rs2142382909
NM_001287.6(CLCN7):c.698_712dup (p.Ser237_Val238insGlyValIleLeuSer) rs2142382851
NM_001287.6(CLCN7):c.774C>T (p.Ala258=) rs376136801
NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys) rs1395527274
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.