ClinVar Miner

List of variants in gene RTEL1, RTEL1-TNFRSF6B studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.81463
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.80871
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_001283009.2(RTEL1):c.477+35C>T rs2297434 0.45720
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
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.2414-6C>T rs376868750 0.00214
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.3049G>A (p.Asp1017Asn) rs61736617 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.2940T>C (p.Pro980=) rs141618172 0.00074
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
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.2852-33G>C rs201259542 0.00043
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
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.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=) rs142965557 0.00019
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
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.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=) rs564198378 0.00007
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.3003G>A (p.Ala1001=) rs368070468 0.00006
NM_001283009.2(RTEL1):c.3823-14C>T rs536966266 0.00005
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=) rs767770069 0.00004
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln) rs146544609 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly) rs1394884130 0.00001
NM_001283009.2(RTEL1):c.2851G>A (p.Gly951Ser) rs6089959 0.00001
NM_001283009.2(RTEL1):c.2852-9C>T rs375886371 0.00001
NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=) rs767648957 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3870C>T (p.Ser1290=) rs765090741 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.-93C>T rs2297432
NM_001283009.2(RTEL1):c.-9C>G rs2146141277
NM_001283009.2(RTEL1):c.1266+29_1267-88dup rs1568703547
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=) rs117195545
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
NM_001283009.2(RTEL1):c.1601_1602delinsTT (p.Ser534Phe) rs2145421604
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=) rs779793496
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.311C>T (p.Thr104Met) rs367809459
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=) rs368588082
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=) rs200452563
NM_001283009.2(RTEL1):c.396-78A>G
NM_001283009.2(RTEL1):c.42T>C (p.Pro14=) rs2146141432
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870

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