ClinVar Miner

List of variants reported as pathogenic by Bioinformatics dept., Datar Cancer Genetics Limited, India

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001377275.1(PER3):c.1243C>G (p.Pro415Ala) rs150812083 0.00511
NM_001377275.1(PER3):c.1250A>G (p.His417Arg) rs139315125 0.00511
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter) rs80359462
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter) rs80359197
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001002295.2(GATA3):c.1051-1G>C rs112417755
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.512dup (p.Gln172fs) rs587781487
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914

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