List of variants studied for Seckel syndrome 8

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001080449.3(DNA2):c.507C>A (p.Ala169=)	rs3758626	0.28903
NM_001080449.3(DNA2):c.888G>A (p.Pro296=)	rs16925390	0.01237
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)	rs141731085	0.00726
NM_001080449.3(DNA2):c.295T>C (p.Leu99=)	rs140077857	0.00675
NM_001080449.3(DNA2):c.1057+19del	rs34922453
NM_001080449.3(DNA2):c.2156G>T (p.Arg719Ile)	rs2051805505
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)	rs73274785
NM_001080449.3(DNA2):c.2697+13del	rs370068890
NM_001080449.3(DNA2):c.3114+6del	rs587777614
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr)	rs759464271
NM_001080449.3(DNA2):c.720-4del	rs34191745
NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr)	rs2133413753

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