ClinVar Miner

List of variants in gene TNFRSF11A studied for autosomal recessive osteopetrosis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 0.00011
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_003839.4(TNFRSF11A):c.*2086G>A rs528958493 0.00001
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn) rs2145289462
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs) rs2145357936
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg) rs121908659
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr) rs2145309285
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys) rs121908657
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly) rs121908655
NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg) rs121908656
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser) rs766330561
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser) rs121908658
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220

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