ClinVar Miner

List of variants in gene BARD1 reported as likely pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_000465.4(BARD1):c.1678-1G>T rs767208318 0.00001
NM_000465.4(BARD1):c.2001+2T>C rs567493750 0.00001
NM_000465.2:c.1764_1765insALU
NM_000465.2:c.1776_1777insL1
NM_000465.2:c.924_925insALU
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1314+1G>T rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter) rs1553628365
NM_000465.4(BARD1):c.1395+1dup rs1553619688
NM_000465.4(BARD1):c.1396-14A>G rs2469445078
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1396-5A>G rs1559410251
NM_000465.4(BARD1):c.1568+1G>T rs2106076135
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1568+2del
NM_000465.4(BARD1):c.1568+2dup rs761579543
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.1569-2A>G rs1693509336
NM_000465.4(BARD1):c.158+1G>C rs1553628351
NM_000465.4(BARD1):c.158+2_158+10del rs2469637148
NM_000465.4(BARD1):c.159-1G>A rs879254139
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1676_1677+2del rs2469377349
NM_000465.4(BARD1):c.1677+1G>A rs1060501310
NM_000465.4(BARD1):c.1677+2T>A rs2469377325
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1678-2A>C
NM_000465.4(BARD1):c.1678-2A>G rs1693089850
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+2T>A rs1574737047
NM_000465.4(BARD1):c.1904-1G>A rs2469277929
NM_000465.4(BARD1):c.1934_2001+52del rs1574706516
NM_000465.4(BARD1):c.1961del (p.Pro654fs) rs2469277145
NM_000465.4(BARD1):c.1978del (p.Ser660fs)
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2002-15_2003del rs2469271486
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2065dup (p.Asp689fs) rs2469270823
NM_000465.4(BARD1):c.2074_2084del (p.Ile692fs) rs2469270655
NM_000465.4(BARD1):c.2099dup (p.Gln701fs) rs1553612184
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter) rs149262370
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.215+1G>A rs2106145519
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter) rs2105987094
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter) rs1559372004
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs) rs2469268815
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs) rs2469267341
NM_000465.4(BARD1):c.2295_2296del (p.Asp765fs) rs2469267297
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2301_2303delinsACATC (p.Met768fs) rs2469267150
NM_000465.4(BARD1):c.364+1G>A rs2106134408
NM_000465.4(BARD1):c.365-1G>T rs1559426428

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