ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome 1 by OMIM

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Total variants: 4

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HGVS	dbSNP
NM_001184.4(ATR):c.2022A>G (p.Gly674=)	rs587776690
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile)	rs587777851
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr)	rs387907327
NM_001184.4(ATR):c.6897+464C>G	rs587777852

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