ClinVar Miner

List of variants reported as likely benign by GeneKor MSA

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04289
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000179.3(MSH6):c.1068T>C (p.Gly356=) rs749752524 0.00004
NM_000535.7(PMS2):c.2349C>T (p.Val783=) rs751036491 0.00002
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) rs1057522770

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