ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as likely pathogenic for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
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.2869C>T (p.Arg957Trp) rs398123018 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.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 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.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)
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.1249dup (p.Ala417fs)
NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)
NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
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.1637-24_1637del
NM_001283009.2(RTEL1):c.1653_1666delinsTGA (p.Val552fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_001283009.2(RTEL1):c.2026-1G>T
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)
NM_001283009.2(RTEL1):c.2141+1G>T
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-1G>C
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)
NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2265+2T>A rs1555811966
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2284dup (p.Arg762fs)
NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
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.2414-2A>G rs1555812178
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653-1G>A
NM_001283009.2(RTEL1):c.2653-2A>C rs1555812834
NM_001283009.2(RTEL1):c.2653-3_2653-1del
NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)
NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)
NM_001283009.2(RTEL1):c.2749del (p.Gln917fs)
NM_001283009.2(RTEL1):c.276del (p.Ala93fs)
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2852-1G>A
NM_001283009.2(RTEL1):c.2852-1G>C rs2145448526
NM_001283009.2(RTEL1):c.2852-2A>C
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_001283009.2(RTEL1):c.2859C>A (p.Tyr953Ter)
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.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+1G>C
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.301+1G>C
NM_001283009.2(RTEL1):c.302-1G>C
NM_001283009.2(RTEL1):c.302-2A>G
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
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.310_311dup (p.Asp105fs)
NM_001283009.2(RTEL1):c.3110-1G>A
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3259A>T (p.Lys1087Ter)
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3344-2A>G rs980695424
NM_001283009.2(RTEL1):c.3406_3409dup (p.Gly1137fs)
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.3559C>T (p.Gln1187Ter) rs776525427
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs) rs2145479688
NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.395+2T>G
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.396-59del
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.478-2A>G
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter) rs1161373315
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)
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.820_827del (p.Ser274fs)
NM_001283009.2(RTEL1):c.821C>G (p.Ser274Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.919+1G>T
NM_001283009.2(RTEL1):c.919+2T>C
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]

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