ClinVar Miner

List of variants reported as pathogenic by Center of Medical Genetics and Primary Health Care

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
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.574dup (p.Met192fs) rs397507802
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs) rs397507839
NM_000059.4(BRCA2):c.7689del (p.His2563fs) rs80359674
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs) rs80359752
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs) rs886038003
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter) rs1553962069
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121

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