ClinVar Miner

List of variants studied for Osteopetrosis

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ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
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.*1626G>C rs8767 0.60777
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034 0.56701
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.*1332C>T rs941439 0.37181
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.28610
NM_003839.4(TNFRSF11A):c.-39G>A rs7238731 0.28496
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_001287.6(CLCN7):c.660C>T (p.His220=) rs12923538 0.14578
NM_001287.6(CLCN7):c.485-10T>C rs35280276 0.13624
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496 0.12362
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_003839.4(TNFRSF11A):c.75+5G>A rs146553439 0.02406
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_001287.6(CLCN7):c.801G>A (p.Thr267=) rs61743590 0.01670
NM_003839.4(TNFRSF11A):c.*668G>T rs78622775 0.01625
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_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00618
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.*1572C>T rs539134149 0.00264
NM_001287.6(CLCN7):c.*241G>A rs559965660 0.00198
NM_001287.6(CLCN7):c.1354-7C>T rs41286691 0.00170
NM_001287.6(CLCN7):c.141+8C>G rs11861560 0.00136
NM_001287.6(CLCN7):c.*262G>A rs572569244 0.00107
NM_001287.6(CLCN7):c.90C>T (p.Pro30=) rs550851648 0.00096
NM_001287.6(CLCN7):c.*1452G>A rs578092313 0.00080
NM_001287.6(CLCN7):c.*1026C>A rs761591980 0.00071
NM_001287.6(CLCN7):c.130G>A (p.Ala44Thr) rs528173586 0.00071
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_001287.6(CLCN7):c.1701C>T (p.Thr567=) rs143025396 0.00045
NM_001287.6(CLCN7):c.*1180G>C rs370167870 0.00036
NM_001287.6(CLCN7):c.*89C>T rs372232215 0.00035
NM_001287.6(CLCN7):c.*1248G>A rs371394735 0.00034
NM_001287.6(CLCN7):c.2154C>T (p.Phe718=) rs145775350 0.00034
NM_001287.6(CLCN7):c.*1297T>C rs556488187 0.00032
NM_001287.6(CLCN7):c.2331+12C>T rs371977822 0.00031
NM_001287.6(CLCN7):c.*1368G>A rs376131222 0.00025
NM_001287.6(CLCN7):c.212C>T (p.Pro71Leu) rs145267254 0.00025
NM_001287.6(CLCN7):c.1098+11C>G rs202234120 0.00023
NM_001287.6(CLCN7):c.411G>A (p.Thr137=) rs139649449 0.00022
NM_003701.4(TNFSF11):c.*333_*343del rs886050255 0.00022
NM_001287.6(CLCN7):c.*1685G>A rs376387077 0.00021
NM_001287.6(CLCN7):c.*388C>T rs745852264 0.00020
NM_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_001287.6(CLCN7):c.*543C>T rs542386664 0.00017
NM_001287.6(CLCN7):c.*996C>T rs1018535341 0.00017
NM_001287.6(CLCN7):c.*130G>A rs561217125 0.00016
NM_001287.6(CLCN7):c.*1189G>A rs886051691 0.00014
NM_001287.6(CLCN7):c.*1667C>T rs780617974 0.00014
NM_001287.6(CLCN7):c.2110C>T (p.Arg704Trp) rs375281048 0.00014
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met) rs201003681 0.00014
NM_001287.6(CLCN7):c.*9C>T rs773825294 0.00013
NM_001287.6(CLCN7):c.286-9G>T rs200321142 0.00013
NM_001287.6(CLCN7):c.*1421G>C rs886051689 0.00012
NM_001287.6(CLCN7):c.*228C>T rs143364973 0.00012
NM_001287.6(CLCN7):c.1272G>A (p.Thr424=) rs145286036 0.00012
NM_001287.6(CLCN7):c.2214C>T (p.Ser738=) rs531105528 0.00012
NM_006019.3(TCIRG1):c.-128G>C rs536563994 0.00012
NM_001287.6(CLCN7):c.*1403A>C rs886051690 0.00011
NM_001287.6(CLCN7):c.2415G>A (p.Thr805=) rs202080270 0.00011
NM_001287.6(CLCN7):c.*510G>C rs527600278 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_001287.6(CLCN7):c.521T>C (p.Phe174Ser) rs752298744 0.00009
NM_001287.6(CLCN7):c.*1607G>T rs941409246 0.00008
NM_001287.6(CLCN7):c.120T>A (p.Ala40=) rs886051703 0.00008
NM_014028.4(OSTM1):c.*2517del rs886060961 0.00008
NM_003839.3(TNFRSF11A):c.-49G>A rs886054081 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_001287.6(CLCN7):c.1098+15C>T rs760916017 0.00006
NM_001287.6(CLCN7):c.1884-10C>A rs753459440 0.00006
NM_001287.6(CLCN7):c.1884-6C>T rs570339629 0.00006
NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu) rs184833329 0.00006
NM_001287.6(CLCN7):c.286-10C>T rs376717256 0.00006
NM_001287.6(CLCN7):c.351+14C>T rs886051701 0.00006
NM_001287.6(CLCN7):c.595-3C>T rs372809649 0.00006
NM_001287.6(CLCN7):c.*1573G>A rs890063151 0.00004
NM_001287.6(CLCN7):c.*216C>T rs528735755 0.00004
NM_001287.6(CLCN7):c.1038C>T (p.His346=) rs200937692 0.00004
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln) rs780959736 0.00004
NM_001287.6(CLCN7):c.1307G>A (p.Arg436Gln) rs553904081 0.00004
NM_001287.6(CLCN7):c.1986C>T (p.Pro662=) rs374264233 0.00004
NM_001287.6(CLCN7):c.564C>T (p.Leu188=) rs781074115 0.00004
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_001287.6(CLCN7):c.*1017C>A rs1430382276 0.00003
NM_001287.6(CLCN7):c.*1293G>A rs529027139 0.00003
NM_001287.6(CLCN7):c.*1491C>T rs886051688 0.00003
NM_001287.6(CLCN7):c.*614G>A rs886051694 0.00003
NM_001287.6(CLCN7):c.1138G>A (p.Ala380Thr) rs553977226 0.00003
NM_001287.6(CLCN7):c.697G>A (p.Gly233Ser) rs774749842 0.00003
NM_001287.6(CLCN7):c.729C>T (p.Ala243=) rs542484303 0.00003
NM_001287.6(CLCN7):c.777C>T (p.Ala259=) rs746128123 0.00003
NM_001287.6(CLCN7):c.95G>C (p.Gly32Ala) rs537057233 0.00003
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_001287.6(CLCN7):c.*1289G>A rs2038618955 0.00002
NM_001287.6(CLCN7):c.*135G>A rs1249374686 0.00002
NM_001287.6(CLCN7):c.*355C>T rs886051696 0.00002
NM_001287.6(CLCN7):c.*379C>T rs753373584 0.00002
NM_001287.6(CLCN7):c.*396G>A rs149057560 0.00002
NM_001287.6(CLCN7):c.*57C>T rs886051697 0.00002
NM_001287.6(CLCN7):c.1135A>G (p.Ile379Val) rs768971657 0.00002
NM_001287.6(CLCN7):c.285+7G>A rs372024516 0.00002
NM_001287.6(CLCN7):c.286-7C>A rs1191046309 0.00002
NM_001287.6(CLCN7):c.351+12G>A rs371035809 0.00002
NM_001287.6(CLCN7):c.*1085G>A rs1174585279 0.00001
NM_001287.6(CLCN7):c.*1330C>T rs2038617678 0.00001
NM_001287.6(CLCN7):c.*1589G>C rs532736933 0.00001
NM_001287.6(CLCN7):c.*24C>T rs1361452118 0.00001
NM_001287.6(CLCN7):c.*671T>C rs1427445361 0.00001
NM_001287.6(CLCN7):c.1207C>T (p.Arg403Ter) rs200789982 0.00001
NM_001287.6(CLCN7):c.132T>A (p.Ala44=) rs886051702 0.00001
NM_001287.6(CLCN7):c.1332C>T (p.Gly444=) rs749075927 0.00001
NM_001287.6(CLCN7):c.1524G>A (p.Thr508=) rs150009847 0.00001
NM_001287.6(CLCN7):c.1705A>G (p.Ile569Val) rs753172781 0.00001
NM_001287.6(CLCN7):c.2014-5T>C rs1032878925 0.00001
NM_001287.6(CLCN7):c.2331+14G>A rs886051698 0.00001
NM_001287.6(CLCN7):c.253C>T (p.His85Tyr) rs374263832 0.00001
NM_001287.6(CLCN7):c.352-11G>A rs764398895 0.00001
NM_001287.6(CLCN7):c.821A>G (p.Lys274Arg) rs775085622 0.00001
NM_001287.5(CLCN7):c.-81C>T rs886051704
NM_001287.6(CLCN7):c.*1143_*1144dup rs146690487
NM_001287.6(CLCN7):c.*1144dup rs146690487
NM_001287.6(CLCN7):c.*1215C>A rs893418963
NM_001287.6(CLCN7):c.*132C>T rs764192196
NM_001287.6(CLCN7):c.*1497dup rs373942084
NM_001287.6(CLCN7):c.*1619GGT[1] rs143409179
NM_001287.6(CLCN7):c.*1623G>T rs1451036503
NM_001287.6(CLCN7):c.*359A>G rs762306226
NM_001287.6(CLCN7):c.*414C>T rs886051695
NM_001287.6(CLCN7):c.*592G>C rs184831951
NM_001287.6(CLCN7):c.*632C>G rs751460368
NM_001287.6(CLCN7):c.*717C>A rs886051693
NM_001287.6(CLCN7):c.*797G>T rs886051692
NM_001287.6(CLCN7):c.108G>T (p.Leu36=) rs766712653
NM_001287.6(CLCN7):c.1099-8C>T rs1188556155
NM_001287.6(CLCN7):c.1448-15C>T rs370055983
NM_001287.6(CLCN7):c.1626G>A (p.Ala542=) rs147838517
NM_001287.6(CLCN7):c.1797+15C>G rs367688658
NM_001287.6(CLCN7):c.2021G>T (p.Arg674Leu) rs758816489
NM_001287.6(CLCN7):c.2028G>C (p.Gln676His) rs886051700
NM_001287.6(CLCN7):c.2124G>A (p.Leu708=) rs2038669299
NM_001287.6(CLCN7):c.2150G>A (p.Arg717His) rs886051699
NM_001287.6(CLCN7):c.285+8T>C rs2038938204
NM_001287.6(CLCN7):c.774C>T (p.Ala258=) rs376136801
NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys) rs1395527274
NM_001287.6(CLCN7):c.95G>T (p.Gly32Val) rs537057233
NM_003839.4(TNFRSF11A):c.*1057A>T rs886054099
NM_003839.4(TNFRSF11A):c.*1251dup rs150401931
NM_003839.4(TNFRSF11A):c.*320del rs552069161
NM_003839.4(TNFRSF11A):c.*320dup rs552069161
NM_003839.4(TNFRSF11A):c.*321del rs886054088
NM_003839.4(TNFRSF11A):c.*379del rs886054089
NM_003839.4(TNFRSF11A):c.*626_*627insCC rs886054093
NM_003839.4(TNFRSF11A):c.*634_*635dup rs142942284
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.2279TGGGCC[3] (p.760LG[3]) rs199973759
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.555G>C (p.Leu185=) rs886048595
NM_014028.4(OSTM1):c.*1441del rs140320992
NM_014028.4(OSTM1):c.*1932dup rs74900179
NM_014028.4(OSTM1):c.*2351del rs886060962
NM_014028.4(OSTM1):c.*2370dup rs58798743
NM_014028.4(OSTM1):c.*2488del rs879213270
NM_014028.4(OSTM1):c.*2515_*2516del rs562640840
NM_014028.4(OSTM1):c.*2517_*2518del rs886060960
NM_014028.4(OSTM1):c.255_256delinsC (p.Glu86fs)

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