ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 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.3463G>A (p.Val1155Met) rs149145821 0.00026
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.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 0.00009
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.396-68C>T rs773832819 0.00006
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=) rs2090805113 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=) rs749496657 0.00001
NM_001283009.2(RTEL1):c.3447G>C (p.Gln1149His) rs969247050 0.00001
NM_001283009.2(RTEL1):c.3475C>T (p.Leu1159Phe) rs1267571923 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.118C>G (p.Leu40Val)
NM_001283009.2(RTEL1):c.1256A>G (p.Gln419Arg)
NM_001283009.2(RTEL1):c.1405C>A (p.Arg469Ser) rs369940581
NM_001283009.2(RTEL1):c.146C>G (p.Thr49Arg)
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1664G>C (p.Gly555Ala)
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1753C>G (p.Leu585Val)
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1995G>C (p.Glu665Asp)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2621G>A (p.Gly874Glu)
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.2647C>T (p.His883Tyr)
NM_001283009.2(RTEL1):c.2722A>T (p.Ser908Cys) rs2090787000
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2889G>C (p.Gln963His) rs1274218203
NM_001283009.2(RTEL1):c.2889G>T (p.Gln963His) rs1274218203
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3310A>C (p.Thr1104Pro) rs762872907
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3619G>A (p.Gly1207Arg)
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3808C>T (p.Gln1270Ter) rs751235783
NM_001283009.2(RTEL1):c.464G>A (p.Ser155Asn)
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.958+4A>G rs2146210816

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