ClinVar Miner

List of variants reported as likely pathogenic by Dr. Peter K. Rogan Lab,Western University

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Total variants: 8
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HGVS dbSNP
NM_000051.4(ATM):c.1924G>T (p.Glu642Ter) rs1057519364
NM_000051.4(ATM):c.3747-1G>A rs730881364
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_005591.4(MRE11):c.2070+2T>A rs786202801
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_133510.4(RAD51B):c.84G>A (p.Gln28=) rs764896402

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