ClinVar Miner

List of variants in gene TERT reported as likely pathogenic for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.2368G>A (p.Val790Ile) rs371413388 0.00004
NM_198253.3(TERT):c.1700C>T (p.Thr567Met) rs886039438 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) rs1388515349 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NC_000005.9:g.(?_1282524)_(1282759_?)dup
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) rs917650159
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1573+2T>A
NM_198253.3(TERT):c.1574-1G>A rs1750106866
NM_198253.3(TERT):c.1574-1G>C
NM_198253.3(TERT):c.1769+2T>C
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1951-2A>C
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn) rs1579575848
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)
NM_198253.3(TERT):c.2130+1G>A
NM_198253.3(TERT):c.2130+1G>C
NM_198253.3(TERT):c.2130+2T>G
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2286+1G>T
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2382+1G>C rs1749089374
NM_198253.3(TERT):c.2382+1G>T
NM_198253.3(TERT):c.2382+235_2453del
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)
NM_198253.3(TERT):c.2654+1G>C
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.2970+1G>A
NM_198253.3(TERT):c.2970+2T>G rs2126584187
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3032+1G>C
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) rs770144114
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.3158-2A>C
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_198253.3(TERT):c.421C>G (p.Leu141Val) rs775225240
NM_198253.3(TERT):c.902G>T (p.Arg301Leu) rs1268051204

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