ClinVar Miner

List of variants in gene BAP1 reported as uncertain significance for uveal melanoma

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu) rs374928824 0.00017
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_004656.4(BAP1):c.916G>A (p.Glu306Lys) rs779566198 0.00004
NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp) rs761029538 0.00003
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile) rs762654322 0.00003
NM_004656.4(BAP1):c.1843A>G (p.Met615Val) rs1183229867 0.00002
NM_004656.4(BAP1):c.1148G>A (p.Arg383His) rs374620220 0.00001
NM_004656.4(BAP1):c.1553G>A (p.Arg518Gln) rs535796204 0.00001
NM_004656.4(BAP1):c.1060G>A (p.Val354Ile) rs1174579740
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1271G>A (p.Gly424Glu)
NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser) rs751399960
NM_004656.4(BAP1):c.1337A>T (p.Asn446Ile) rs751399960
NM_004656.4(BAP1):c.1343T>G (p.Leu448Trp)
NM_004656.4(BAP1):c.1622T>C (p.Val541Ala) rs2153226634
NM_004656.4(BAP1):c.1715C>T (p.Pro572Leu) rs1553644798
NM_004656.4(BAP1):c.274G>C (p.Ala92Pro)
NM_004656.4(BAP1):c.932-2dup

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