ClinVar Miner

List of variants in gene BARD1 reported as pathogenic by GeneDx

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00003
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.1817_1818del (p.His606fs) rs587782897 0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_000465.4(BARD1):c.1014del (p.Ser339fs) rs1064793682
NM_000465.4(BARD1):c.1023del (p.Ser342fs) rs876660061
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.457_460dup (p.Val154fs) rs772486760
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) rs786202500
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.607G>T (p.Gly203Ter) rs730881415
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter) rs587780035
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) rs587781430
NM_000465.4(BARD1):c.838_839del (p.Leu280fs) rs876659752

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