ClinVar Miner

List of variants reported as likely pathogenic 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: 72
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
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_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 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.42G>A rs1156413585 0.00001
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.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.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NM_000400.4(ERCC2):c.1480-1G>C
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.931G>A (p.Asp311Asn) rs179363867
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_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.394C>G (p.Arg132Gly)
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
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.-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):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.213C>G rs192060920

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