ClinVar Miner

List of variants reported as benign for calcium metabolic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_004795.4(KL):c.2619T>C (p.Asn873=) rs649964 0.97241
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_004795.4(KL):c.273T>C (p.Asp91=) rs2772364 0.94529
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_006580.4(CLDN16):c.*1763T>A rs9844654 0.84514
NM_004795.4(KL):c.2701+22T>A rs650439 0.81086
NM_004795.4(KL):c.2247T>C (p.Ala749=) rs648202 0.76534
NC_000003.12:g.122183002G>A rs6776158 0.61708
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_004069.6(AP2S1):c.154-32T>G rs312185 0.51023
NM_000782.5(CYP24A1):c.*1256_*1257insAT rs10623012 0.49683
NM_004482.4(GALNT3):c.*281T>A rs13429321 0.39072
NM_004795.4(KL):c.1767C>T (p.His589=) rs564481 0.30857
NM_000782.4(CYP24A1):c.*1327G>A rs4811494 0.30270
NM_000782.5(CYP24A1):c.*140T>C rs4809957 0.28683
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=) rs2296239 0.28667
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_000782.5(CYP24A1):c.*715C>G rs6022987 0.27231
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
NM_006580.4(CLDN16):c.*794T>C rs2293532 0.19740
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_006580.4(CLDN16):c.114+10T>C rs1491994 0.18734
NM_006580.4(CLDN16):c.-45G>C rs3214506 0.18663
NM_000782.5(CYP24A1):c.*50C>T rs2762934 0.17757
NM_006580.4(CLDN16):c.*1117G>A rs10470534 0.17644
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
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_000388.4(CASR):c.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_006580.4(CLDN16):c.*842C>T rs77656241 0.09613
NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) rs6068816 0.08737
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726 0.08251
NM_000782.5(CYP24A1):c.990+9G>A rs6022993 0.07682
NM_000782.5(CYP24A1):c.*872C>T rs11907350 0.07142
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_000782.5(CYP24A1):c.-76C>T rs73913755 0.05036
NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=) rs61730999 0.04268
NM_000782.5(CYP24A1):c.*438C>T rs16999060 0.02867
NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr) rs6022990 0.02863
NM_000782.5(CYP24A1):c.*77T>G rs16999067 0.02858
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_000782.5(CYP24A1):c.-94A>G rs74424092 0.01798
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_000782.5(CYP24A1):c.-100T>C rs144737632 0.01502
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) rs3752472 0.01461
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
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_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_004482.4(GALNT3):c.669G>A (p.Val223=) rs13423840 0.00802
NM_000782.5(CYP24A1):c.*716G>A rs75213738 0.00792
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_000782.5(CYP24A1):c.1529C>T (p.Ala510Val) rs116065115 0.00529
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_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) rs143316426 0.00135
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_000782.5(CYP24A1):c.*885T>G rs182056037 0.00095
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850 0.00063
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser) rs76747058 0.00046
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.2388G>A (p.Lys796=) rs200701164 0.00012
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000782.5(CYP24A1):c.-154T>G rs75209626
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_004795.4(KL):c.2702-59dup rs34137141
NM_006580.4(CLDN16):c.-45del rs368234054
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398

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