ClinVar Miner

List of variants reported as pathogenic for breast disorder by King Laboratory, University of Washington

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NG_008150.2:g.14927_51132dup
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7089+1_7089+38del rs2085827807
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000465.4(BARD1):c.1569-12T>G rs879254246
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del) rs2151043202
NM_001330368.2(C11orf65):c.640+16147_640+22966del
NM_002878.4(RAD51D):c.738+402_*1465del
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.3(BRIP1):c.93+1G>A rs587782047
PALB2:c.2515-1G>T rs587776417

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