ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
NC_000003.12:g.(?_169481351)_(169484227_?)del
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)
NM_002582.4(PARN):c.1006-2A>G
NM_002582.4(PARN):c.784-170_840+174del
NM_004991.4(MECOM):c.38-100973_38-100960del
NM_004991.4(MECOM):c.38-101210del
NM_004991.4(MECOM):c.38-101211_38-101210del
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
NM_198253.3(TERT):c.347C>T (p.Thr116Ile)

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