ClinVar Miner

List of variants studied for Familial cancer of breast by Center of Medical Genetics and Primary Health Care

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His) rs1593897379
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs) rs1064793413
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter) rs1555284032
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs) rs397507839
NM_000059.4(BRCA2):c.7689del (p.His2563fs) rs80359674
NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser) rs11571769
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000249.4(MLH1):c.954C>A (p.His318Gln) rs146777069
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121

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