ClinVar Miner

List of variants in gene NHP2 reported as uncertain significance for Dyskeratosis congenita

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_017838.4(NHP2):c.289A>G (p.Met97Val) rs372840247 0.00006
NM_017838.4(NHP2):c.290T>C (p.Met97Thr) rs147530082 0.00006
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr) rs780696831 0.00006
NM_017838.4(NHP2):c.335C>T (p.Thr112Met) rs768262654 0.00004
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser) rs201390429 0.00003
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn) rs761328868 0.00002
NM_017838.4(NHP2):c.235A>T (p.Met79Leu) rs377700562 0.00002
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn) rs757358075 0.00002
NM_017838.4(NHP2):c.161-2A>T rs766032992 0.00001
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln) rs769920343 0.00001
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser) rs1756325870 0.00001
NM_017838.4(NHP2):c.236T>C (p.Met79Thr) rs1426285845 0.00001
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn) rs769331750 0.00001
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly) rs201129701 0.00001
NM_017838.4(NHP2):c.336G>A (p.Thr112=) rs746472214 0.00001
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala) rs1196159721 0.00001
NC_000005.10:g.(?_178149693)_(178153837_?)del
NC_000005.10:g.(?_178149693)_(178153837_?)dup
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
NM_017838.4(NHP2):c.106dup (p.Gln36fs) rs1756333644
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp) rs1439650238
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs) rs1756332858
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg) rs2113476542
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
NM_017838.4(NHP2):c.160+4A>C rs1419452406
NM_017838.4(NHP2):c.160+4A>G
NM_017838.4(NHP2):c.160+5G>C
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
NM_017838.4(NHP2):c.163G>A (p.Val55Met) rs1756327381
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg) rs2113476084
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
NM_017838.4(NHP2):c.177G>C (p.Gln59His) rs2113476075
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp) rs773420072
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg) rs1756326801
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
NM_017838.4(NHP2):c.197_198del (p.Glu66fs) rs1333837047
NM_017838.4(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn) rs2113475874
NM_017838.4(NHP2):c.230+4dup rs1581137979
NM_017838.4(NHP2):c.231-9T>C
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.4(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
NM_017838.4(NHP2):c.267_270del (p.Glu89fs) rs754436041
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys) rs772671488
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys) rs760076146
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
NM_017838.4(NHP2):c.336+2T>C
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln) rs1296058145
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr) rs1373808491
NM_017838.4(NHP2):c.61dup (p.Glu21fs) rs780613876
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile) rs1341101133
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)

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