ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2851+52T>C rs370125588 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter) rs778734749 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=) rs368388044 0.00001
NM_001283009.2(RTEL1):c.396-48G>A rs1274609500 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del) rs1555811251
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met) rs1163455875
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met) rs768910485
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys) rs1555811919
NM_001283009.2(RTEL1):c.2265+2T>A rs1555811966
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2414-2A>G rs1555812178
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del) rs1555812456
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653-2A>C rs1555812834
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3344-2A>G rs980695424
NM_001283009.2(RTEL1):c.347A>G (p.His116Arg) rs746010778
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del) rs1258943409
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu) rs1555814729
NM_001283009.2(RTEL1):c.3786C>T (p.Phe1262=) rs1555814752
NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val) rs1555814876
NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr) rs1555814886
NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del) rs1555899638
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter) rs1161373315
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter) rs1555901000
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_032957.4(RTEL1):c.838_840delGAG rs1555901753

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