ClinVar Miner

List of variants reported by GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_000059.4(BRCA2):c.8755-66T>C rs4942486 0.51824
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_007294.4(BRCA1):c.4358-2885G>A rs8176193 0.30892
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.4987-68A>G rs8176234 0.30809
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.4987-92A>G rs8176233 0.30647
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_007294.4(BRCA1):c.442-34C>T rs799923 0.15730
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_002185.5(IL7R):c.419G>A (p.Arg140Gln) rs200373233 0.00019
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914

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