ClinVar Miner

List of variants in gene CLCN7 reported as benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.*1389A>C rs710900 0.90699
NM_001287.6(CLCN7):c.*887C>T rs6600146 0.85737
NM_001287.6(CLCN7):c.*886C>T rs1050834 0.85735
NM_001287.6(CLCN7):c.485-39A>C rs2072950 0.73095
NM_001287.6(CLCN7):c.*1626G>C rs8767 0.60777
NM_001287.6(CLCN7):c.285+52C>A rs2744994 0.60500
NM_001287.6(CLCN7):c.1884-35T>C rs12597739 0.53608
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.*735C>T rs2294542 0.51156
NM_001287.6(CLCN7):c.981+133G>A rs7190701 0.48855
NM_001287.6(CLCN7):c.2251-50G>A rs12599176 0.41216
NM_001287.6(CLCN7):c.*1332C>T rs941439 0.37181
NM_001287.6(CLCN7):c.1618-49G>A rs742408 0.36776
NM_001287.6(CLCN7):c.676-85G>A rs8061743 0.20005
NM_001287.6(CLCN7):c.660C>T (p.His220=) rs12923538 0.14578
NM_001287.6(CLCN7):c.485-10T>C rs35280276 0.13624
NM_001287.6(CLCN7):c.*627A>G rs10903009 0.12292
NM_001287.6(CLCN7):c.*19A>G rs11860968 0.11981
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_001287.6(CLCN7):c.1798-8G>A rs35915213 0.10339
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=) rs12926669 0.09695
NM_001287.6(CLCN7):c.1128G>A (p.Pro376=) rs12935737 0.06897
NM_001287.6(CLCN7):c.1614G>A (p.Ala538=) rs117461525 0.06889
NM_001287.6(CLCN7):c.*1157C>T rs9921 0.06755
NM_001287.6(CLCN7):c.1798-10C>T rs35939214 0.03622
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_001287.6(CLCN7):c.*1176C>T rs150325021 0.03316
NM_001287.6(CLCN7):c.*990C>T rs114884549 0.03040
NM_001287.6(CLCN7):c.-20G>C rs112055095 0.02459
NM_001287.6(CLCN7):c.801G>A (p.Thr267=) rs61743590 0.01670
NM_001287.6(CLCN7):c.921G>A (p.Gly307=) rs114169064 0.01310
NM_001287.6(CLCN7):c.696C>T (p.Ser232=) rs117183989 0.01006
NM_001287.6(CLCN7):c.*496T>C rs60516531 0.00800
NM_001287.6(CLCN7):c.*1645G>C rs74002247 0.00770
NM_001287.6(CLCN7):c.1617+13G>A rs58998621 0.00586
NM_001287.6(CLCN7):c.*530G>A rs188481235 0.00519
NM_001287.6(CLCN7):c.1961C>T (p.Thr654Met) rs114827619 0.00491
NM_001287.6(CLCN7):c.675+10C>T rs116495246 0.00471
NM_001287.6(CLCN7):c.-32G>A rs141324197 0.00462
NM_001287.6(CLCN7):c.1626G>T (p.Ala542=) rs147838517 0.00437
NM_001287.6(CLCN7):c.1857G>A (p.Pro619=) rs139826207 0.00342
NM_001287.6(CLCN7):c.*262G>A rs572569244 0.00107
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met) rs201003681 0.00014
NM_001287.6(CLCN7):c.1448-43dup rs61073146
NM_001287.6(CLCN7):c.676-86C>G rs8060503

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