ClinVar Miner

List of variants studied for uveal melanoma by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_004656.4(BAP1):c.660-26T>A rs139414598 0.00328
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004656.4(BAP1):c.2057-22A>C rs144083199 0.00246
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_004656.4(BAP1):c.642C>T (p.Ile214=) rs200953639 0.00008
NM_004656.4(BAP1):c.6T>C (p.Asn2=) rs753081347 0.00005
NM_004656.4(BAP1):c.659+17T>A rs753960146 0.00004
NM_004656.4(BAP1):c.210C>T (p.Ser70=) rs558581070 0.00002
NM_004656.4(BAP1):c.1134G>A (p.Ala378=) rs371493799 0.00001
NM_004656.4(BAP1):c.1515G>A (p.Ser505=) rs374099588 0.00001
NM_004656.4(BAP1):c.1722G>A (p.Ala574=) rs774348167 0.00001
NM_004656.4(BAP1):c.375+12T>A rs564875789 0.00001
NM_004656.4(BAP1):c.1173C>T (p.Pro391=) rs1553645150
NM_004656.4(BAP1):c.675C>T (p.Asp225=) rs961974192

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