ClinVar Miner

List of variants in gene BAG3 reported as likely pathogenic for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.20C>A (p.Ser7Ter) rs1473083093 0.00003
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004281.4(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.4(BAG3):c.1131_1134del (p.Ser377fs)
NM_004281.4(BAG3):c.1257dup (p.Pro420fs) rs2134069115
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.4(BAG3):c.339del (p.Tyr114fs) rs1589628864
NM_004281.4(BAG3):c.350dup (p.Gly118fs) rs1554877037
NM_004281.4(BAG3):c.580del (p.Ser194fs) rs1064795700
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) rs1057518511
NM_004281.4(BAG3):c.909+1G>C
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) rs1847236072

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