ClinVar Miner

List of variants in gene combination NHP2, RMND5B reported as likely benign for Dyskeratosis congenita

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.369C>T (p.Pro123=) rs375285426 0.00034
NM_017838.4(NHP2):c.417C>T (p.Tyr139=) rs567317314 0.00005
NM_017838.4(NHP2):c.366C>G (p.Arg122=) rs2113463130
NM_017838.4(NHP2):c.378G>A (p.Val126=) rs1756216301
NM_017838.4(NHP2):c.447G>A (p.Leu149=) rs754228756
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
NM_022762.5(RMND5B):c.*1817G>A rs1028921372
NM_022762.5(RMND5B):c.*1821G>A
NM_022762.5(RMND5B):c.*1824G>A

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