List of variants reported as pathogenic by Godley laboratory, The University of Chicago

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014915.3(ANKRD26):c.-126T>C	rs1589393792	0.00001
NC_000016.9:g.(?_14725823)_(14643928_?)del
NM_001283009.2(RTEL1):c.1135+1G>A	rs1555903332
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)	rs760506977
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	rs1194223999

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