ClinVar Miner

List of variants in gene PBRM1 reported by ITMI

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001405607.1(PBRM1):c.1097A>G (p.Tyr366Cys) rs373477703 0.00006
NM_001405607.1(PBRM1):c.998A>G (p.Asn333Ser) rs547790173 0.00006
NM_001405607.1(PBRM1):c.4901C>T (p.Ala1634Val) rs142726131 0.00005
NM_001405607.1(PBRM1):c.4954G>A (p.Asp1652Asn) rs201397730 0.00004
NM_001405607.1(PBRM1):c.1544A>G (p.Asn515Ser) rs587777964 0.00001
NM_001405607.1(PBRM1):c.2861G>T (p.Gly954Val) rs587778591 0.00001
NM_001405607.1(PBRM1):c.736C>A (p.His246Asn) rs587778593 0.00001
NM_001405607.1(PBRM1):c.409G>T (p.Ala137Ser) rs587778592

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