List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.-57A>C	rs878855297	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_000400.4(ERCC2):c.334C>T (p.Arg112Cys)	rs760820378	0.00001
NM_001283009.2(RTEL1):c.1037+1G>T	rs895722334	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.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_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)
NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)
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.1458del (p.Ser487fs)	rs2090629495
NM_001283009.2(RTEL1):c.1637-24_1637del
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
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.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.2364dup (p.Ala789fs)
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)
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.2653-1G>A
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.276del (p.Ala93fs)
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
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>T	rs1421904176
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>C
NM_001283009.2(RTEL1):c.302-1G>C
NM_001283009.2(RTEL1):c.302-2A>G
NM_001283009.2(RTEL1):c.3110-2A>C	rs377461417
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.3406_3409dup (p.Gly1137fs)
NM_001283009.2(RTEL1):c.3500-1G>A	rs1205986855
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.396-59del
NM_001283009.2(RTEL1):c.396-74A>C	rs1555899773
NM_001283009.2(RTEL1):c.478-2A>G
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	rs780546933
NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)	rs1555901832
NM_001283009.2(RTEL1):c.919+1G>T
NM_001283009.2(RTEL1):c.984del (p.Ile329fs)	rs2146211234
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)	rs2145105580
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	rs730880471
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	rs1569151872
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_198253.3(TERT):c.-124C>T	rs1242535815
NM_198253.3(TERT):c.1951-2A>C
NM_198253.3(TERT):c.219+2T>A
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	rs938938578

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