ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1191+1G>A rs2090461817
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1228_1266+39del rs2090573767
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1595+1G>A rs2145421181
NM_001283009.2(RTEL1):c.1595_1595+8del
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2413+1G>T
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+2T>A
NM_001283009.2(RTEL1):c.2992+492_3068del
NM_001283009.2(RTEL1):c.301+1G>A rs2146149228
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3109+1G>T
NM_001283009.2(RTEL1):c.3109+2T>C
NM_001283009.2(RTEL1):c.3109+2T>G
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3499+1G>A
NM_001283009.2(RTEL1):c.3499+2T>C
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.919+2T>C

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