ClinVar Miner

List of variants in gene NHP2, RMND5B studied for Dyskeratosis congenita

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Total variants: 9
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NM_017838.4(NHP2):c.394C>T (p.His132Tyr)
NM_017838.4(NHP2):c.397_399GAG[1] (p.Glu134del)
NM_017838.4(NHP2):c.441G>T (p.Gln147His)
NM_022762.5(RMND5B):c.*1748_*1755dup rs755460344
NM_022762.5(RMND5B):c.*1760A>G rs759145032
NM_022762.5(RMND5B):c.*1774G>A rs375285426
NM_022762.5(RMND5B):c.*1791C>T rs139588879
NM_022762.5(RMND5B):c.*1792G>A rs115334254

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