ClinVar Miner

List of variants in gene BARD1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
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.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter) rs878853995 0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) rs796666047 0.00001
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.1021dup (p.Leu341fs) rs1553622300
NM_000465.4(BARD1):c.1023del (p.Ser342fs) rs876660061
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter) rs1553622218
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter) rs878853995
NM_000465.4(BARD1):c.1185del (p.Pro396fs)
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter) rs1172609046
NM_000465.4(BARD1):c.1210del (p.Tyr404fs) rs1694947319
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs) rs1553622164
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer) rs1553622145
NM_000465.4(BARD1):c.1270del (p.Arg424fs) rs876660911
NM_000465.4(BARD1):c.1282G>T (p.Gly428Ter) rs1553622106
NM_000465.4(BARD1):c.1323dup (p.Pro442fs) rs1694365908
NM_000465.4(BARD1):c.1336_1337del (p.Tyr446fs) rs1694364224
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs) rs1553619713
NM_000465.4(BARD1):c.157del (p.Cys53fs) rs1696452439
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter) rs876658429
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs) rs1553616361
NM_000465.4(BARD1):c.1646_1647dup (p.Glu550fs) rs1693501054
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs) rs753537518
NM_000465.4(BARD1):c.1758del (p.Ser586fs) rs1559387024
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter) rs878854003
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter) rs773223671
NM_000465.4(BARD1):c.190G>T (p.Gly64Ter) rs1695792091
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1949del (p.Lys650fs) rs1692302934
NM_000465.4(BARD1):c.1952_1958del (p.Tyr651fs) rs1692301420
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) rs1553612164
NM_000465.4(BARD1):c.266del (p.Pro89fs) rs1553624802
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter) rs1559437094
NM_000465.4(BARD1):c.292_295del (p.Asn98fs) rs1553624758
NM_000465.4(BARD1):c.373G>T (p.Glu125Ter) rs1553622720
NM_000465.4(BARD1):c.415_416del (p.Lys139fs) rs1420243208
NM_000465.4(BARD1):c.441dup (p.Ser148Ter) rs1553622681
NM_000465.4(BARD1):c.51del (p.Asn18fs)
NM_000465.4(BARD1):c.535_536del (p.Ser179fs) rs1695020358
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.592del (p.Ala198fs) rs876660761
NM_000465.4(BARD1):c.614del (p.Lys205fs) rs1559425604
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs) rs1695009134
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000465.4(BARD1):c.624dup (p.Lys209fs) rs1553622558
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs) rs876659040
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) rs587781430
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter) rs587780037
NM_000465.4(BARD1):c.899del (p.Pro300fs)
NM_000465.4(BARD1):c.904A>T (p.Lys302Ter) rs1559424634
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer) rs1482641121
NM_000465.4(BARD1):c.999dup (p.Lys334Ter) rs1559424302

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