ClinVar Miner

List of variants in gene combination LOC130060153, TNFSF12, TNFSF12-TNFSF13 reported as uncertain significance for immunodeficiency, common variable, 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys) rs768061768 0.00044
NM_003809.3(TNFSF12):c.26G>A (p.Arg9Gln) rs1211322156 0.00001
NM_003809.3(TNFSF12):c.38G>A (p.Arg13Gln) rs1432222435 0.00001
NM_003809.3(TNFSF12):c.68C>T (p.Pro23Leu) rs753098151 0.00001
NM_003809.3(TNFSF12):c.23G>A (p.Arg8Lys) rs958789070
NM_003809.3(TNFSF12):c.29G>C (p.Arg10Thr)
NM_003809.3(TNFSF12):c.35G>C (p.Arg12Pro) rs2070968615
NM_003809.3(TNFSF12):c.46C>A (p.Pro16Thr) rs2150904004
NM_003809.3(TNFSF12):c.55G>A (p.Ala19Thr) rs2070969376
NM_003809.3(TNFSF12):c.59T>C (p.Leu20Pro)
NM_003809.3(TNFSF12):c.64G>C (p.Val22Leu) rs1413049593
NM_003809.3(TNFSF12):c.80G>T (p.Gly27Val)
NM_003809.3(TNFSF12):c.80GCCTGG[1] (p.27GL[1])
NM_003809.3(TNFSF12):c.80GCCTGG[3] (p.Leu30_Ala31insGlyLeu)
NM_003809.3(TNFSF12):c.88C>G (p.Leu30Val) rs1230643396

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