ClinVar Miner

List of variants in gene combination LOC130009662, TNFSF11 reported as uncertain significance for autosomal recessive osteopetrosis 2

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
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.-64C>G rs886050251 0.00003
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) rs779371056 0.00002
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.-147C>T rs1873177411
NM_003701.4(TNFSF11):c.-74C>T rs569615616
NM_003701.4(TNFSF11):c.-7G>C rs998463381
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)

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