ClinVar Miner

List of variants reported as uncertain significance for breast disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (69):
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.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_032043.3(BRIP1):c.-237dup rs112243287 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.-114A>G rs778519204 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 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.245G>T (p.Gly82Val) rs886055600 0.00002
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.1448A>G (p.His483Arg) rs587781874 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_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_032043.3(BRIP1):c.*339G>C rs886053212 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_000465.4(BARD1):c.*135_*138dup rs113789798
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu) rs761516178
NM_000465.4(BARD1):c.1403C>G (p.Ala468Gly) rs886055599
NM_000465.4(BARD1):c.215+13G>A rs886055601
NM_000465.4(BARD1):c.216-14T>C rs775103922
NM_000465.4(BARD1):c.216-15_216-14del rs56130510
NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro) rs876658253
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
NM_032043.3(BRIP1):c.*1048_*1050del rs564290244
NM_032043.3(BRIP1):c.*1255AG[1] rs886053209
NM_032043.3(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.3(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.3(BRIP1):c.*394CT[1] rs546666211
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641

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