ClinVar Miner

List of variants reported as likely pathogenic by Pathway Genomics

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Total variants: 11
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HGVS dbSNP
NM_000251.2(MSH2):c.2304del (p.Glu768fs) rs587783053
NM_000251.2(MSH2):c.2363_2364del (p.Thr788fs) rs63750937
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000546.5(TP53):c.267del (p.Ser90fs) rs587783062
NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) rs587782885
NM_004329.2(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4987-1G>A rs730881495

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