ClinVar Miner

List of variants studied for breast cancer by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (61):
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Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110

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