ClinVar Miner

List of variants studied for breast disorder by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000179.3(MSH6):c.3646+5G>A rs1669974239
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter) rs1960744183
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123

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