ClinVar Miner

List of variants reported as benign for calcinosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.2619T>C (p.Asn873=) rs649964 0.97241
NM_004795.4(KL):c.273T>C (p.Asp91=) rs2772364 0.94529
NM_006580.4(CLDN16):c.*1763T>A rs9844654 0.84514
NM_004795.4(KL):c.2247T>C (p.Ala749=) rs648202 0.76534
NM_004482.4(GALNT3):c.*281T>A rs13429321 0.39072
NM_004795.4(KL):c.1767C>T (p.His589=) rs564481 0.30857
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
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_004795.4(KL):c.1109G>C (p.Cys370Ser) rs9527025 0.15805
NM_004795.4(KL):c.1155G>A (p.Lys385=) rs9527026 0.15795
NM_004795.4(KL):c.1054T>G (p.Phe352Val) rs9536314 0.15781
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
NM_006580.4(CLDN16):c.*842C>T rs77656241 0.09613
NM_004482.4(GALNT3):c.-295T>A rs111425435 0.02796
NM_004795.4(KL):c.*1286A>G rs41292181 0.02431
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_004795.4(KL):c.1540C>T (p.Pro514Ser) rs3752472 0.01461
NM_006580.4(CLDN16):c.*204C>T rs73053979 0.01330
NM_004795.4(KL):c.*543G>A rs116819287 0.01299
NM_006580.4(CLDN16):c.*1453G>C rs13076274 0.01276
NM_004795.4(KL):c.1407T>C (p.Gly469=) rs138916294 0.01262
NM_020638.3(FGF23):c.*1079A>G rs13312798 0.01230
NM_004795.4(KL):c.140G>A (p.Arg47Gln) rs201936594 0.01179
NM_004482.4(GALNT3):c.799G>T (p.Val267Phe) rs114933655 0.01135
NM_004482.4(GALNT3):c.*783A>G rs115493554 0.01034
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_004482.4(GALNT3):c.669G>A (p.Val223=) rs13423840 0.00802
NM_004482.4(GALNT3):c.1827T>C (p.Asn609=) rs142136047 0.00763
NM_004795.4(KL):c.*1619T>C rs114924800 0.00745
NM_004795.4(KL):c.326T>G (p.Leu109Arg) rs35239775 0.00735
NM_004482.4(GALNT3):c.*515G>A rs144354033 0.00728
NM_004795.4(KL):c.320C>T (p.Ala107Val) rs115511178 0.00702
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00696
NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys) rs35041121 0.00671
NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile) rs146521644 0.00668
NM_004795.4(KL):c.607G>T (p.Ala203Ser) rs116289670 0.00657
NM_006580.4(CLDN16):c.*1234A>C rs144651280 0.00638
NM_004482.4(GALNT3):c.*186C>T rs183674066 0.00613
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys) rs35328951 0.00553
NM_004795.4(KL):c.393C>A (p.Asn131Lys) rs79554512 0.00458
NM_004795.4(KL):c.327G>C (p.Leu109=) rs116810451 0.00457
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00421
NM_020638.3(FGF23):c.*1971T>C rs140798293 0.00403
NM_020638.3(FGF23):c.*1471C>A rs114125104 0.00388
NM_020638.3(FGF23):c.*1219C>T rs115582772 0.00387
NM_020638.3(FGF23):c.*1316C>A rs138576496 0.00387
NM_020638.3(FGF23):c.*1464T>C rs144700678 0.00387
NM_004482.4(GALNT3):c.407A>G (p.Glu136Gly) rs114745771 0.00319
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) rs149809222 0.00293
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
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.45C>G (p.Phe15Leu) rs149116671 0.00248
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067

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.