ClinVar Miner

List of variants in gene PMS2 reported as pathogenic by University of Washington Department of Laboratory Medicine,University of Washington

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.6(PMS2):c.1500delC (p.Val501Trpfs) rs759151952
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.904-?_1144+?del

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