ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_018451.5(CENPJ):c.3367-12T>C rs3742163 0.00421
NM_018451.5(CENPJ):c.*570T>C rs139596189 0.00313
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318

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