ClinVar Miner

List of variants in gene NHP2, RMND5B studied for hereditary skin disorder

Included ClinVar conditions (791):
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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_017838.4(NHP2):c.337-14T>C rs201653595 0.00188
NM_017838.4(NHP2):c.369C>T (p.Pro123=) rs375285426 0.00034
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_017838.4(NHP2):c.417C>T (p.Tyr139=) rs567317314 0.00005
NM_017838.4(NHP2):c.441G>T (p.Gln147His) rs757655789 0.00004
NM_017838.4(NHP2):c.388_395dup (p.His132fs) rs755460344 0.00003
NM_017838.4(NHP2):c.434A>T (p.Glu145Val) rs143501297 0.00001
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys) rs779452625 0.00001
NM_017838.4(NHP2):c.449C>A (p.Pro150His) rs1401974529 0.00001
NC_000005.10:g.(?_178149707)_(178153823_?)del
NM_017838.4(NHP2):c.337-11C>T rs1028921372
NM_017838.4(NHP2):c.337-15C>T
NM_017838.4(NHP2):c.337-18C>T
NM_017838.4(NHP2):c.337-3T>C
NM_017838.4(NHP2):c.339C>T (p.Asp113=)
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg) rs750874926
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg) rs2113463207
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys) rs752392516
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
NM_017838.4(NHP2):c.366C>G (p.Arg122=) rs2113463130
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
NM_017838.4(NHP2):c.373T>C (p.Cys125Arg)
NM_017838.4(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.4(NHP2):c.378G>A (p.Val126=) rs1756216301
NM_017838.4(NHP2):c.383T>C (p.Met128Thr) rs759145032
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del) rs1756214889
NM_017838.4(NHP2):c.413C>G (p.Ala138Gly)
NM_017838.4(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn) rs1214412834
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
NM_017838.4(NHP2):c.445C>G (p.Leu149Val)
NM_017838.4(NHP2):c.447G>A (p.Leu149=) rs754228756
NM_017838.4(NHP2):c.455C>A (p.Pro152His)
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly) rs121908091

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