ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_003701.4(TNFSF11):c.*745T>C rs12721444 0.00615
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) rs200121871 0.00316
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00228
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00129
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00052
NM_003701.4(TNFSF11):c.-141C>T rs45468495 0.00046
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) rs146484645 0.00024
NM_003701.4(TNFSF11):c.*159G>A rs186999111 0.00013
NM_003701.4(TNFSF11):c.*357C>T rs192340175 0.00011
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00008
NM_003701.4(TNFSF11):c.*754A>C rs924942406 0.00006
NM_003701.4(TNFSF11):c.*667A>G rs12584726 0.00005
NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) rs746313384 0.00005
NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) rs201151635 0.00005
NM_003701.4(TNFSF11):c.*554A>G rs200749870 0.00003
NM_003701.4(TNFSF11):c.-64C>G rs886050251 0.00003
NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) rs775866494 0.00003
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) rs779371056 0.00002
NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) rs199769531 0.00002
NM_003701.4(TNFSF11):c.*113G>A rs886050253 0.00001
NM_003701.4(TNFSF11):c.*152A>G rs886050254 0.00001
NM_003701.4(TNFSF11):c.-104C>T rs1873181204 0.00001
NM_003701.4(TNFSF11):c.-4C>T rs781185506 0.00001
NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) rs201389502 0.00001
NM_003701.4(TNFSF11):c.533-8C>T rs1869458758 0.00001
NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) rs61761332 0.00001
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu) rs1471498841 0.00001
NM_003701.4(TNFSF11):c.*119C>T rs200387399
NM_003701.4(TNFSF11):c.*221G>C rs1315042884
NM_003701.4(TNFSF11):c.*242A>G rs1594485076
NM_003701.4(TNFSF11):c.*261G>A rs995293287
NM_003701.4(TNFSF11):c.*94T>G rs886050252
NM_003701.4(TNFSF11):c.-147C>T rs1873177411
NM_003701.4(TNFSF11):c.-74C>T rs569615616
NM_003701.4(TNFSF11):c.-7G>C rs998463381
NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) rs199910582
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) rs201199211
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) rs199529587
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.532+4_532+8del rs2137905441
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) rs121909072
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter) rs267603829
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) rs863223288
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407
NM_003701.4(TNFSF11):c.929del (p.Ala310fs) rs2137916719

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