ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive osteopetrosis 2

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00272
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00214
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00143
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00120
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00056
NM_003701.4(TNFSF11):c.*357C>T rs192340175 0.00050
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) rs146484645 0.00024
NM_003701.4(TNFSF11):c.*159G>A rs186999111 0.00017
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00009
NM_003701.4(TNFSF11):c.*754A>C rs924942406 0.00006
NM_003701.4(TNFSF11):c.*242A>G rs1594485076 0.00005
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.*261G>A rs995293287 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.424G>A (p.Ala142Thr) rs199529587 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.*119C>T rs200387399
NM_003701.4(TNFSF11):c.*221G>C rs1315042884
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) rs201199211
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) rs201199211
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.572G>A (p.Arg191Gln)
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407

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