ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_001099857.5(IKBKG):c.399+19G>C rs386134239 0.00223
NM_001099857.5(IKBKG):c.518+7C>T rs386134241 0.00200
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
NC_000009.12:g.35658033_35658040dup rs1563908212 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658021_35658034dup rs1554651373
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658037dup rs1823637565
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658029_35658036dup rs1230629953
NC_000009.12:g.35658029_35658041dup rs751921616
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000023.11:g.70027902_70027919del rs397516668
NM_000400.4(ERCC2):c.1480-1G>C
NM_001099857.5(IKBKG):c.1056-6= rs5945206
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) rs386134238
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_001099857.5(IKBKG):c.519-3_519dup rs1557236445
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) rs2071133474
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.394C>G (p.Arg132Gly)
NM_001814.6(CTSC):c.503A>G (p.Tyr168Cys)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.