ClinVar Miner

List of variants reported as pathogenic for breast disorder by Mendelics

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NC_000017.11:g.43045086_43057213del
NC_000017.11:g.43110502_43125418del
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs) rs2137028850
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter) rs2091208125
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs) rs2137492902
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs) rs2137498577
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs) rs2137501910
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer) rs2137515902
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter) rs2072875960
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.931del (p.Cys311fs) rs2137466012
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter) rs1057524700
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs) rs2152139643
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007294.4(BRCA1):c.-107A>T rs2154580237
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer) rs2154458213
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs) rs1380657206
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.2683del (p.Gln895fs) rs2154364983
NM_007294.4(BRCA1):c.4185+1G>A rs80358076
NM_007294.4(BRCA1):c.4675+1G>T rs80358044
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs) rs2153700736
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5153-2A>C rs786202545
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) rs1567220784
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) rs1567218690
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs) rs1597089845
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs) rs1597082866
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3332del (p.Pro1111fs) rs1597066595
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.625del (p.Ser209fs) rs1597098739
NM_024675.4(PALB2):c.715del (p.Arg239fs) rs1567222476
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234

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