ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 4; Mismatch repair cancer syndrome 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.904-2A>G rs587781339

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