List of variants reported as pathogenic for Seckel syndrome 1

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001184.4(ATR):c.6897+464C>G	rs587777852	0.00010
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter)	rs1453839157	0.00001
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr)	rs387907327	0.00001
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.4641+1G>T	rs797045403
NM_130384.3(ATRIP):c.829+2T>G	rs2107215447

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