ClinVar Miner

List of variants in gene BARD1 studied for hereditary breast ovarian cancer syndrome

Included ClinVar conditions (33):
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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093 0.74904
NM_000465.4(BARD1):c.158+46A>C rs35933323 0.73949
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_000465.4(BARD1):c.1315-19G>A rs6704780 0.37148
NM_000465.4(BARD1):c.1568+51A>G rs5031009 0.37115
NM_000465.4(BARD1):c.1568+14C>T rs5031011 0.34966
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_000465.4(BARD1):c.1811-69T>C rs74531001 0.07214
NM_000465.4(BARD1):c.2001+66A>C rs75237746 0.06546
NM_000465.4(BARD1):c.159-70T>G rs34377639 0.06157
NM_000465.4(BARD1):c.215+75A>G rs10498023 0.05730
NM_000465.4(BARD1):c.1568+42T>C rs5031010 0.05252
NM_000465.4(BARD1):c.1811-77A>G rs76486825 0.03544
NM_000465.4(BARD1):c.1811-87C>G rs80039307 0.02351
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000465.4(BARD1):c.215+59_215+60del rs67240037 0.01582
NM_000465.4(BARD1):c.1314+29C>G rs71579845 0.01508
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_000465.4(BARD1):c.1569-56A>G rs71579853 0.00762
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000465.4(BARD1):c.1678-60T>C rs4986842 0.00718
NM_000465.4(BARD1):c.159-42A>C rs148092589 0.00654
NM_000465.4(BARD1):c.1904-67A>G rs4986840 0.00623
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr) rs199780731 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_000465.4(BARD1):c.1163T>C (p.Ile388Thr) rs748322604 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000465.4(BARD1):c.1533G>A (p.Lys511=) rs371785856 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.1904-5G>A rs376639978 0.00003
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe) rs1064793959 0.00003
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741 0.00002
NM_000465.4(BARD1):c.977A>G (p.Asn326Ser) rs779960429 0.00002
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg) rs916069875 0.00001
NM_000465.4(BARD1):c.1396-22del rs750290706 0.00001
NM_000465.4(BARD1):c.2029T>C (p.Phe677Leu) rs746790711 0.00001
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) rs139785364 0.00001
NM_000465.4(BARD1):c.427A>G (p.Ile143Val) rs1060501289 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_000465.4(BARD1):c.465A>G (p.Arg155=) rs730881413 0.00001
NM_000465.4(BARD1):c.585T>C (p.Ala195=) rs876658532 0.00001
NM_000465.4(BARD1):c.735A>G (p.Gln245=) rs763378916 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1080T>C (p.Pro360=) rs2106108809
NM_000465.4(BARD1):c.1108del (p.Arg370fs)
NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp) rs568305044
NM_000465.4(BARD1):c.112C>T (p.Arg38Cys) rs1553628385
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn) rs587782436
NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu) rs1553622215
NM_000465.4(BARD1):c.128G>C (p.Arg43Pro) rs1060501305
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val) rs764592698
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1352G>A (p.Gly451Glu) rs771410310
NM_000465.4(BARD1):c.1429G>A (p.Val477Met) rs1024564785
NM_000465.4(BARD1):c.1490C>T (p.Pro497Leu)
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg) rs864622240
NM_000465.4(BARD1):c.1569-7T>G rs1559395026
NM_000465.4(BARD1):c.1569-87T>G rs2106039402
NM_000465.4(BARD1):c.158G>A (p.Cys53Tyr) rs747582517
NM_000465.4(BARD1):c.159-1G>A rs879254139
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159-65T>C rs113582954
NM_000465.4(BARD1):c.1614T>G (p.Ser538Arg)
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1703G>C (p.Gly568Ala) rs1007761710
NM_000465.4(BARD1):c.177G>A (p.Glu59=)
NM_000465.4(BARD1):c.1811-1G>A rs879253952
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del) rs927014703
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1944A>G (p.Glu648=)
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2100C>T (p.Gly700=) rs1692220418
NM_000465.4(BARD1):c.215+68del rs71579844
NM_000465.4(BARD1):c.216-3A>T rs1329481396
NM_000465.4(BARD1):c.2188C>A (p.Gln730Lys) rs1559372004
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
NM_000465.4(BARD1):c.222T>C (p.Cys74=) rs1168791343
NM_000465.4(BARD1):c.277C>A (p.Gln93Lys) rs876658571
NM_000465.4(BARD1):c.30_44del (p.Gln11_Arg15del) rs587781297
NM_000465.4(BARD1):c.390_391del (p.Ser131fs) rs2106112637
NM_000465.4(BARD1):c.401A>G (p.Asn134Ser) rs1559426297
NM_000465.4(BARD1):c.485C>T (p.Ser162Leu) rs755693106
NM_000465.4(BARD1):c.518dup (p.Ser174fs) rs1574821103
NM_000465.4(BARD1):c.570T>A (p.Asp190Glu) rs2106111710
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000465.4(BARD1):c.661G>C (p.Glu221Gln) rs1695005056
NM_000465.4(BARD1):c.877A>G (p.Ser293Gly)
Single allele

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