ClinVar Miner

List of variants reported as uncertain significance for Primary hypomagnesemia

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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006580.4(CLDN16):c.*1427A>G rs191406701 0.00311
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.*1491A>G rs113286536 0.00177
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.*586G>T rs560036875 0.00024
NM_006580.4(CLDN16):c.*1817T>C rs764222909 0.00022
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.22A>G (p.Ile8Val) rs145118503 0.00002
NM_006580.4(CLDN16):c.99T>C (p.Ala33=) rs201545856 0.00002
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.670G>A (p.Glu224Lys) rs756192568 0.00001
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.117G>A (p.Val39=) rs528344809
NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro) rs867514971
NM_006580.4(CLDN16):c.218-10G>A rs1719047633
NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) rs1719051110
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) rs1170178042
NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006580.4(CLDN16):c.564T>C (p.Tyr188=) rs1719164774
NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys) rs1719228589

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