ClinVar Miner

List of variants studied for breast cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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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.-48T>C rs17489363 0.73905
NM_000465.4(BARD1):c.-30G>C rs1129804 0.73899
NM_000465.4(BARD1):c.-78G>A rs34732883 0.63732
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_000465.4(BARD1):c.1568+14C>T rs5031011 0.34966
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) rs1048108 0.32854
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_000465.4(BARD1):c.-83C>T rs71579840 0.02454
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
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.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_000465.4(BARD1):c.2082C>T (p.Leu694=) rs139620052 0.00018
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00012
NM_000465.4(BARD1):c.1568+15G>T rs145936354 0.00010
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000465.4(BARD1):c.-114A>G rs778519204 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_000465.4(BARD1):c.*38C>T rs751500588 0.00004
NM_000465.4(BARD1):c.1473G>A (p.Gly491=) rs151080730 0.00004
NM_000465.4(BARD1):c.2280G>A (p.Ser760=) rs749959440 0.00004
NM_000465.4(BARD1):c.783A>G (p.Leu261=) rs201862973 0.00004
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg) rs587781376 0.00003
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln) rs587782246 0.00003
NM_000465.4(BARD1):c.-26G>A rs1245329214 0.00001
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu) rs759370463 0.00001
NM_000465.4(BARD1):c.123C>A (p.Leu41=) rs764410072 0.00001
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser) rs878854011 0.00001
NM_000465.4(BARD1):c.465A>G (p.Arg155=) rs730881413 0.00001
NM_000465.4(BARD1):c.735A>G (p.Gln245=) rs763378916 0.00001
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala) rs886041139 0.00001
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu) rs761516178
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) rs2070094
NM_000465.4(BARD1):c.215+13G>A rs886055601
NM_000465.4(BARD1):c.216-14T>C rs775103922
NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro) rs876658253
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.45C>A (p.Arg15=) rs786201402
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.587A>G (p.Lys196Arg) rs587781520
NM_000465.4(BARD1):c.903G>A (p.Glu301=) rs1694982551
NM_000465.4(BARD1):c.93C>G (p.Arg31=) rs778803692
NM_000465.4(BARD1):c.98C>T (p.Ala33Val) rs1559454402

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