ClinVar Miner

List of variants in gene BAP1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887 0.00007
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter) rs1553645146
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1213G>T (p.Glu405Ter) rs1705082679
NM_004656.4(BAP1):c.127dup (p.Val43fs) rs1553646061
NM_004656.4(BAP1):c.1375del (p.Leu459fs)
NM_004656.4(BAP1):c.1381del (p.Ile461fs) rs1559586965
NM_004656.4(BAP1):c.155G>A (p.Trp52Ter) rs1559591728
NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs) rs1705043129
NM_004656.4(BAP1):c.1652delinsATC (p.Arg551fs)
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1881_1882delinsG (p.Tyr627_Ser628delinsTer) rs1705020162
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs) rs1559585465
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) rs1578219056
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.510dup (p.Val171fs) rs1553645809
NM_004656.4(BAP1):c.592del (p.Glu198fs) rs1205668341
NM_004656.4(BAP1):c.805G>T (p.Glu269Ter) rs1553645509
NM_004656.4(BAP1):c.855dup (p.Lys286fs) rs1553645486
NM_004656.4(BAP1):c.898_899del (p.Arg300fs) rs1578224341
NM_004656.4(BAP1):c.956C>G (p.Ser319Ter) rs1553645329

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