ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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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.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
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.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.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 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.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.-9C>G rs2146141277
NM_001283009.2(RTEL1):c.1266+29_1267-88dup rs1568703547
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
NM_001283009.2(RTEL1):c.1601_1602delinsTT (p.Ser534Phe) rs2145421604
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=) rs779793496
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
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.42T>C (p.Pro14=) rs2146141432
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870

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