ClinVar Miner

List of variants studied for Melanoma, cutaneous malignant, susceptibility to, 9 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_198253.3(TERT):c.1836C>G (p.Ala612=) rs34170122 0.00056
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.129C>T (p.Asp43=) rs772537721 0.00006
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2307C>T (p.Leu769=) rs117662357 0.00001
NM_198253.3(TERT):c.3165G>A (p.Ser1055=) rs554739019 0.00001
NM_198253.3(TERT):c.729C>T (p.Ala243=) rs762491880 0.00001

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