ClinVar Miner

List of variants studied for breast cancer by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000465.4(BARD1):c.119C>T (p.Ala40Val) rs71579841 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) rs370887726 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294 0.00005
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.1655A>G (p.Gln552Arg) rs375611746 0.00001
NM_024675.4(PALB2):c.3038T>C (p.Ile1013Thr) rs775666266 0.00001
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747 0.00001
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys) rs1060501752 0.00001
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg) rs372581879 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln) rs756313788 0.00001
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys) rs186626274
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.983T>G (p.Leu328Arg)
NM_024675.4(PALB2):c.2876T>C (p.Val959Ala) rs2142337057
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser) rs1276811545
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser) rs1060501773
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr) rs1057522432
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr) rs1057522433

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