ClinVar Miner

List of variants in gene RTEL1, RTEL1-TNFRSF6B, TNFRSF6B studied for autosomal recessive disease

Included ClinVar conditions (1196):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) rs2738787 0.94528
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met) rs766509761 0.00012
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys) rs570762078 0.00008
NM_003823.4(TNFRSF6B):c.*83G>A rs767909940 0.00004
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg) rs917853575 0.00004
NM_003823.4(TNFRSF6B):c.*75G>A rs1375849919 0.00003
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter) rs747918186 0.00003
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His) rs767090761 0.00003
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys) rs768195916 0.00003
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His) rs575430880 0.00003
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp) rs756317669 0.00002
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=) rs555469304 0.00002
NM_003823.4(TNFRSF6B):c.*10C>T rs766685059 0.00001
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr) rs750153793 0.00001
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys) rs753653499 0.00001
NM_003823.4(TNFRSF6B):c.*3C>T rs1270503048
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs) rs1305695581
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val) rs1555816251
NM_003823.4(TNFRSF6B):c.769C>A (p.Leu257Met) rs1301451713
NM_003823.4(TNFRSF6B):c.787G>A (p.Glu263Lys) rs781286204
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=) rs541025487

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