List of variants in gene NOP10 reported as uncertain significance for ectodermal dysplasia syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_018648.4(NOP10):c.55-9C>T	rs72720799	0.00037
NM_018648.4(NOP10):c.*172T>G	rs886051058	0.00010
NM_018648.4(NOP10):c.51G>C (p.Leu17=)	rs761222362	0.00004
NM_018648.4(NOP10):c.*132T>G	rs995405881	0.00003
NM_018648.4(NOP10):c.31G>A (p.Gly11Arg)	rs370894572	0.00002
NM_018648.4(NOP10):c.*108T>C	rs1890481506	0.00001
NM_018648.4(NOP10):c.179C>T (p.Pro60Leu)	rs765367178	0.00001
NM_018648.4(NOP10):c.75A>T (p.Gln25His)	rs368082745	0.00001
NC_000015.10:g.(?_34341948)_(34343093_?)dup
NC_000015.9:g.(?_34634149)_(34635294_?)del
NC_000015.9:g.(?_34634169)_(34635274_?)dup
NM_018648.3(NOP10):c.-101C>G	rs1890516145
NM_018648.4(NOP10):c.*184A>G	rs113289404
NM_018648.4(NOP10):c.*80C>T	rs983946861
NM_018648.4(NOP10):c.10C>T (p.Gln4Ter)
NM_018648.4(NOP10):c.11A>G (p.Gln4Arg)
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs)	rs1595604667
NM_018648.4(NOP10):c.127C>G (p.Arg43Gly)	rs1890485969
NM_018648.4(NOP10):c.128G>A (p.Arg43Gln)
NM_018648.4(NOP10):c.141dup (p.Ile48fs)	rs1890485477
NM_018648.4(NOP10):c.151C>T (p.Arg51Cys)
NM_018648.4(NOP10):c.154T>C (p.Phe52Leu)	rs752083783
NM_018648.4(NOP10):c.156C>G (p.Phe52Leu)	rs2141228644
NM_018648.4(NOP10):c.161T>G (p.Val54Gly)
NM_018648.4(NOP10):c.173A>G (p.Gln58Arg)
NM_018648.4(NOP10):c.174G>T (p.Gln58His)
NM_018648.4(NOP10):c.181C>T (p.Arg61Cys)
NM_018648.4(NOP10):c.185C>T (p.Pro62Leu)
NM_018648.4(NOP10):c.25G>A (p.Glu9Lys)
NM_018648.4(NOP10):c.27G>T (p.Glu9Asp)	rs373678744
NM_018648.4(NOP10):c.36T>G (p.Asp12Glu)	rs1890511080
NM_018648.4(NOP10):c.40_41delinsTG (p.Val14Cys)
NM_018648.4(NOP10):c.54+6G>A
NM_018648.4(NOP10):c.64C>T (p.Pro22Ser)
NM_018648.4(NOP10):c.6del (p.Leu3fs)	rs756134994
NM_018648.4(NOP10):c.76_77del (p.Gln26fs)
NM_018648.4(NOP10):c.89C>A (p.Ala30Asp)	rs748193565
NM_018648.4(NOP10):c.89C>G (p.Ala30Gly)	rs748193565
NM_018648.4(NOP10):c.91C>T (p.His31Tyr)
NM_018648.4(NOP10):c.92A>G (p.His31Arg)	rs373843596
NM_018648.4(NOP10):c.95C>G (p.Pro32Arg)

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