ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (216):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) rs144549494 0.00062
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln) rs201053607 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.569C>T (p.Ala190Val) rs781435225 0.00007
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_017838.4(NHP2):c.335C>T (p.Thr112Met) rs768262654 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_198253.3(TERT):c.2009C>T (p.Ala670Val) rs767382450 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_198253.3(TERT):c.2885G>A (p.Arg962His) rs759490631 0.00002
NM_001143992.2(WRAP53):c.14A>C (p.Glu5Ala) rs752687945 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys) rs730880512 0.00001
NM_198253.3(TERT):c.702G>C (p.Leu234Phe) rs754359147 0.00001
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.568+4A>G
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) rs2126686381
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NR_001566.3(TERC):n.385G>A

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