List of variants in gene combination CENPJ, RNF17 reported as uncertain significance for Seckel syndrome 4

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.*303C>A	rs886050094	0.00157
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)	rs144251950	0.00076
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile)	rs140564566	0.00071
NM_018451.5(CENPJ):c.*779A>T	rs183612636	0.00057
NM_018451.5(CENPJ):c.*541T>C	rs533142063	0.00034
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)	rs41300592	0.00025
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=)	rs113239817	0.00023
NM_018451.5(CENPJ):c.3825-11A>T	rs527946206	0.00012
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser)	rs201508087	0.00010
NM_018451.5(CENPJ):c.*520A>G	rs547113186	0.00009
NM_018451.5(CENPJ):c.*721G>A	rs755143149	0.00007
NM_018451.5(CENPJ):c.*206A>G	rs1011088030	0.00004
NM_018451.5(CENPJ):c.4016G>A (p.Ter1339=)	rs768167259	0.00003
NM_018451.5(CENPJ):c.*26C>T	rs372867684	0.00002
NM_018451.5(CENPJ):c.*569A>G	rs544072060	0.00002
NM_018451.5(CENPJ):c.3618+7T>C	rs769845659	0.00002
NM_018451.5(CENPJ):c.3965G>A (p.Arg1322Gln)	rs775936765	0.00002
NM_018451.5(CENPJ):c.*124G>A	rs886050097	0.00001
NM_018451.5(CENPJ):c.*292A>T	rs886050095	0.00001
NM_018451.5(CENPJ):c.3350A>G (p.Asn1117Ser)	rs768507623	0.00001
NM_018451.5(CENPJ):c.3654G>A (p.Thr1218=)	rs765299653	0.00001
NM_018451.5(CENPJ):c.*267G>A	rs886050096
NM_018451.5(CENPJ):c.*316G>A	rs1953900248
NM_018451.5(CENPJ):c.*464A>G	rs886050093
NM_018451.5(CENPJ):c.*593A>C	rs1566274398
NM_018451.5(CENPJ):c.*783C>T	rs886050092
NM_018451.5(CENPJ):c.3566C>A (p.Thr1189Asn)	rs778219526
NM_018451.5(CENPJ):c.3619-12G>T	rs527997591
NM_018451.5(CENPJ):c.3653C>T (p.Thr1218Met)	rs149855336
NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr)	rs201774037
NM_018451.5(CENPJ):c.3769C>G (p.Pro1257Ala)	rs201774037
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln)	rs761333511

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