List of variants reported as likely benign for Seckel syndrome 4

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)	rs143260721	0.00148
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)	rs139844197	0.00140
NM_018451.5(CENPJ):c.*556A>C	rs188324716	0.00124
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu)	rs79951875	0.00096
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg)	rs78628025	0.00094
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)	rs200061825	0.00043
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)	rs138675304	0.00021
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met)	rs193181742	0.00014
NM_018451.5(CENPJ):c.*890T>C	rs17480581	0.00011

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