ClinVar Miner

List of variants reported as pathogenic for Breast neoplasm by Yang An-Suei Laboratory, Academia Sinica

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309 0.00001
NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) rs1555280073
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2754del (p.Asn918fs) rs1555282830
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) rs397507649
NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter) rs1555283169
NM_000059.4(BRCA2):c.800dup (p.Thr269fs) rs1555281594
NM_000059.4(BRCA2):c.8206del (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs) rs483353077
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) rs1131692035
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter) rs1553622530
NM_000546.6(TP53):c.416_420dup (p.Cys141fs) rs1555526250
NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs) rs1555581104
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3143del (p.Lys1048fs) rs1555458822
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) rs1555461693
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
Single allele

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