ClinVar Miner

List of variants studied for Primary hypomagnesemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006580.4(CLDN16):c.*1763T>A rs9844654 0.84514
NM_006580.4(CLDN16):c.*794T>C rs2293532 0.19740
NM_006580.4(CLDN16):c.114+10T>C rs1491994 0.18734
NM_006580.4(CLDN16):c.-45G>C rs3214506 0.18663
NM_006580.4(CLDN16):c.*1117G>A rs10470534 0.17644
NM_006580.4(CLDN16):c.*842C>T rs77656241 0.09613
NM_006580.4(CLDN16):c.*907A>G rs116488781 0.02277
NM_006580.4(CLDN16):c.*1833G>A rs116119310 0.02172
NM_006580.4(CLDN16):c.*1779A>C rs115514339 0.01992
NM_006580.4(CLDN16):c.*204C>T rs73053979 0.01330
NM_006580.4(CLDN16):c.*1453G>C rs13076274 0.01276
NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys) rs35041121 0.00671
NM_006580.4(CLDN16):c.*1234A>C rs144651280 0.00638
NM_006580.4(CLDN16):c.*181C>T rs145675747 0.00570
NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp) rs139846352 0.00314
NM_006580.4(CLDN16):c.*1427A>G rs191406701 0.00311
NM_006580.3(CLDN16):c.-41C>T rs192579160 0.00298
NM_006580.4(CLDN16):c.*243C>T rs142380851 0.00278
NM_006580.4(CLDN16):c.*2098T>G rs187708101 0.00276
NM_006580.4(CLDN16):c.*1952C>G rs555889249 0.00266
NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu) rs149116671 0.00248
NM_006580.3(CLDN16):c.-3A>T rs200322099 0.00238
NM_006580.4(CLDN16):c.*1883T>G rs573815116 0.00220
NM_006580.4(CLDN16):c.165T>C (p.Phe55=) rs144105475 0.00208
NM_006580.4(CLDN16):c.*1491A>G rs113286536 0.00177
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) rs143316426 0.00135
NM_006580.4(CLDN16):c.*1872C>A rs563600967 0.00079
NM_006580.3(CLDN16):c.-136T>C rs534883127 0.00065
NM_006580.4(CLDN16):c.*1348A>G rs753612393 0.00036
NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) rs143097871 0.00036
NM_006580.3(CLDN16):c.-6C>T rs557493885 0.00029
NM_006580.4(CLDN16):c.*1812A>G rs138543261 0.00027
NM_006580.4(CLDN16):c.*586G>T rs560036875 0.00024
NM_006580.4(CLDN16):c.*1817T>C rs764222909 0.00022
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_006580.4(CLDN16):c.114+13C>G rs369250510 0.00019
NM_006580.4(CLDN16):c.*1313G>A rs565421878 0.00016
NM_006580.4(CLDN16):c.*541A>G rs186108585 0.00016
NM_006580.4(CLDN16):c.*299A>G rs181803078 0.00015
NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) rs549642537 0.00012
NM_006580.4(CLDN16):c.*1145A>G rs1022246328 0.00010
NM_006580.4(CLDN16):c.*965G>A rs769075597 0.00007
NM_006580.4(CLDN16):c.192C>T (p.Tyr64=) rs199651054 0.00007
NM_006580.4(CLDN16):c.*2014T>C rs945912441 0.00006
NM_006580.3(CLDN16):c.-5G>A rs777259905 0.00004
NM_006580.3(CLDN16):c.-82A>G rs886058243 0.00004
NM_006580.4(CLDN16):c.575-7C>T rs757064470 0.00004
NM_006580.4(CLDN16):c.*1170G>A rs886058250 0.00003
NM_006580.4(CLDN16):c.*1559C>A rs886058253 0.00003
NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala) rs139251569 0.00003
NM_006580.4(CLDN16):c.217+5G>A rs751959432 0.00002
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) rs145118503 0.00002
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) rs104893729 0.00002
NM_006580.4(CLDN16):c.99T>C (p.Ala33=) rs201545856 0.00002
NM_006580.4(CLDN16):c.*1178C>T rs533709248 0.00001
NM_006580.4(CLDN16):c.*1333A>G rs886058251 0.00001
NM_006580.4(CLDN16):c.*249G>A rs886058246 0.00001
NM_006580.4(CLDN16):c.*74A>G rs886058245 0.00001
NM_006580.4(CLDN16):c.*761A>G rs886058248 0.00001
NM_006580.4(CLDN16):c.*768del rs886058249 0.00001
NM_006580.4(CLDN16):c.*868A>C rs1447125696 0.00001
NM_006580.4(CLDN16):c.-116G>T rs763354782 0.00001
NM_006580.4(CLDN16):c.-132G>A rs762405207 0.00001
NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) rs761873372 0.00001
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) rs765256758 0.00001
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro) rs104893731 0.00001
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) rs772241737 0.00001
NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg) rs104893721 0.00001
NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys) rs756192568 0.00001
GRCh37/hg19 3q28(chr3:190114218-190144769)x1
NM_006580.3(CLDN16):c.-155C>T rs1718547006
NM_006580.3(CLDN16):c.-206G>T rs1718545875
NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs) rs886058244
NM_006580.4(CLDN16):c.*1022G>A rs556567304
NM_006580.4(CLDN16):c.*1156G>A rs1719277419
NM_006580.4(CLDN16):c.*1377T>A rs886058252
NM_006580.4(CLDN16):c.*1552T>G rs577574442
NM_006580.4(CLDN16):c.*1733A>G rs886058254
NM_006580.4(CLDN16):c.*1793G>C rs942417865
NM_006580.4(CLDN16):c.*493T>C rs1719249633
NM_006580.4(CLDN16):c.*495A>T rs901678187
NM_006580.4(CLDN16):c.*724A>C rs886058247
NM_006580.4(CLDN16):c.*769A>C rs1719257555
NM_006580.4(CLDN16):c.-45del rs368234054
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) rs2108658339
NM_006580.4(CLDN16):c.117G>A (p.Val39=) rs528344809
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) rs2108670592
NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter) rs104893732
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly) rs1430185772
NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro) rs867514971
NM_006580.4(CLDN16):c.218-10G>A rs1719047633
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) rs104893720
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) rs968906940
NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp) rs104893730
NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) rs1719051110
NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro) rs104893725
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) rs104893724
NM_006580.4(CLDN16):c.2T>G (p.Met1Arg) rs104893724
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) rs1253995767
NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg) rs104893722
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) rs1577430815
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) rs138308105
NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe)
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) rs1170178042
NM_006580.4(CLDN16):c.468del (p.Gly157fs) rs1553809654
NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp) rs104893727
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) rs104893728
NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe) rs104893728
NM_006580.4(CLDN16):c.564T>C (p.Tyr188=) rs1719164774
NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys) rs1719228589
NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter) rs387906880
NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter) rs121908543
NM_006580.4:c.(?_598)_(900_?)del

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.