ClinVar Miner

List of variants reported as likely benign for autosomal recessive osteopetrosis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_003701.4(TNFSF11):c.*745T>C rs12721444 0.00615
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) rs200121871 0.00316
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00225
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00110
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00094
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_003701.4(TNFSF11):c.-141C>T rs45468495 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_013322.3(SNX10):c.212+4A>T rs183941048 0.00043
NM_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00041
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_000067.3(CA2):c.139C>T (p.Leu47=) rs145096347 0.00034
NM_000067.3(CA2):c.549C>G (p.Leu183=) rs151021025 0.00034
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly) rs546399681 0.00028
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
NM_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) rs565610194 0.00015
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00013
NM_000067.3(CA2):c.534C>T (p.Phe178=) rs17850824 0.00011
NM_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 0.00011
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 0.00010
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_000067.3(CA2):c.607C>A (p.Leu203Met) rs548376992 0.00007
NM_000067.3(CA2):c.618G>A (p.Val206=) rs369700367 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 0.00007
NM_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_000067.3(CA2):c.444+18T>G rs544980486 0.00006
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 0.00006
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 0.00006
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_031471.6(FERMT3):c.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 0.00002
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) rs768084793 0.00002
NM_031471.6(FERMT3):c.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 0.00002
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001
NM_003839.4(TNFRSF11A):c.*2086G>A rs528958493 0.00001
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00001
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) rs762230079 0.00001
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 0.00001
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 0.00001
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 0.00001
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) rs1179556498 0.00001
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NM_003839.4(TNFRSF11A):c.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=) rs767714758
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_014028.4(OSTM1):c.*2276C>A rs546976371
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
NM_031471.6(FERMT3):c.1029+11G>C
NM_031471.6(FERMT3):c.1029+20A>G
NM_031471.6(FERMT3):c.1030-12G>A
NM_031471.6(FERMT3):c.1030-16T>G
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1079+10G>T
NM_031471.6(FERMT3):c.1080-12C>T
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G
NM_031471.6(FERMT3):c.1080-18C>A
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
NM_031471.6(FERMT3):c.1311+10G>A
NM_031471.6(FERMT3):c.1311+11dup
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-13C>T
NM_031471.6(FERMT3):c.1312-18C>T
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+14T>C
NM_031471.6(FERMT3):c.1545+17G>C
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.161-16C>T
NM_031471.6(FERMT3):c.161-20T>C
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A
NM_031471.6(FERMT3):c.1671-18T>A
NM_031471.6(FERMT3):c.1671-19C>G
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
NM_031471.6(FERMT3):c.1812+12C>T rs1282201698
NM_031471.6(FERMT3):c.1812+13C>A
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
NM_031471.6(FERMT3):c.394+11C>T
NM_031471.6(FERMT3):c.394+19T>G
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
NM_031471.6(FERMT3):c.514+13G>T
NM_031471.6(FERMT3):c.514+15G>A
NM_031471.6(FERMT3):c.514+17G>A
NM_031471.6(FERMT3):c.514+20G>A
NM_031471.6(FERMT3):c.515-10T>G
NM_031471.6(FERMT3):c.515-16C>G
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-6G>T
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+16G>A
NM_031471.6(FERMT3):c.786+18G>A
NM_031471.6(FERMT3):c.787-10C>T
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+20G>A
NM_031471.6(FERMT3):c.894+9C>A
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.895-5C>T
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)

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