ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=) rs138399496 0.00046
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=) rs143740470 0.00035
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_001283009.2(RTEL1):c.1595+9C>T rs370145267 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=) rs369953611 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001283009.2(RTEL1):c.3585G>A (p.Ala1195=) rs368887784 0.00009
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val) rs202157063 0.00008
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=) rs564198378 0.00007
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=) rs375849124 0.00007
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=) rs146662746 0.00006
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=) rs373347391 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=) rs200086502 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=) rs377191081 0.00004
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_001283009.2(RTEL1):c.1723-13C>T rs751640004 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=) rs201356718 0.00002
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=) rs757075776 0.00001
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=) rs1405032353 0.00001
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val) rs1239433355 0.00001
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=) rs148099608 0.00001
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn) rs761447586 0.00001
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn) rs764303844 0.00001
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=) rs760713860 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001283009.2(RTEL1):c.1481+8C>G rs758734115
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu) rs914471851
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1968T>C (p.Val656=) rs757289575
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu) rs141423196
NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala) rs2090707732
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile) rs2145445906
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2979C>A (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
NM_001283009.2(RTEL1):c.3499+5_3499+6insT rs2145478219
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165

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