List of variants in gene CENPJ reported as uncertain significance for Microcephaly 6, primary, autosomal recessive

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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: 36

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu)	rs142535552	0.00058
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)	rs200061825	0.00043
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly)	rs34177811	0.00039
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)	rs41306027	0.00032
NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser)	rs149885751	0.00025
NM_018451.5(CENPJ):c.195C>T (p.Phe65=)	rs775969767	0.00015
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp)	rs150608591	0.00014
NM_018451.5(CENPJ):c.-98G>A	rs551938674	0.00013
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)	rs199925549	0.00011
NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu)	rs201828176	0.00007
NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe)	rs558449977	0.00006
NM_018451.5(CENPJ):c.699G>A (p.Pro233=)	rs587783413	0.00006
NM_018451.5(CENPJ):c.216T>G (p.Asp72Glu)	rs34395671	0.00004
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu)	rs566700308	0.00003
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His)	rs773079639	0.00002
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys)	rs199749446	0.00002
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys)	rs751422006	0.00001
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala)	rs201531824	0.00001
NM_018451.5(CENPJ):c.444+3A>G	rs587783411	0.00001
NM_018451.5(CENPJ):c.504A>G (p.Leu168=)	rs886050101	0.00001
NM_018451.5(CENPJ):c.650G>A (p.Cys217Tyr)	rs587783412	0.00001
NM_018451.5(CENPJ):c.-148C>T	rs376883999
NM_018451.5(CENPJ):c.-24A>G	rs780644943
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu)	rs371842504
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu)	rs886050100
NM_018451.5(CENPJ):c.2210A>G (p.Asp737Gly)	rs587783408
NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly)	rs1409195287
NM_018451.5(CENPJ):c.2658A>G (p.Glu886=)	rs1954501551
NM_018451.5(CENPJ):c.2826-6T>C	rs886050099
NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys)	rs752166766
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=)	rs886050098
NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys)	rs1954196857
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro)	rs886050102
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala)	rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=)	rs748696673
NM_018451.5(CENPJ):c.777_786delinsC (p.Ser260_Asn262del)	rs1555298479

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