List of variants reported as benign for Seckel syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)	rs1802904	0.88595
NM_001184.4(ATR):c.1776T>A (p.Gly592=)	rs2227930	0.63717
NM_001184.4(ATR):c.632T>C (p.Met211Thr)	rs2227928	0.63625
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)	rs2227931	0.34166
NM_001184.4(ATR):c.1815T>C (p.Asp605=)	rs2227929	0.33689
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln)	rs2229032	0.12815
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=)	rs2227932	0.07623
NM_001184.4(ATR):c.2442A>G (p.Glu814=)	rs55895932	0.04528
NM_001184.4(ATR):c.1326A>G (p.Lys442=)	rs28897765	0.01766
NM_001184.4(ATR):c.946G>A (p.Val316Ile)	rs28897764	0.01744
NM_001184.4(ATR):c.1950G>A (p.Glu650=)	rs28910270	0.01739
NM_001184.4(ATR):c.2875G>A (p.Val959Met)	rs28910271	0.01643
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser)	rs55894265	0.01275
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala)	rs33972295	0.01261
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)	rs2229033	0.01036
NM_001184.4(ATR):c.4002G>A (p.Gln1334=)	rs56026468	0.01034
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=)	rs112018640	0.01020
NM_001184.4(ATR):c.6339A>G (p.Val2113=)	rs7635479	0.00964
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr)	rs28367453	0.00450
NM_001184.4(ATR):c.423T>C (p.Ile141=)	rs10935466	0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=)	rs142240637	0.00415
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn)	rs55724025	0.00414
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)	rs77208665	0.00340
NM_001184.4(ATR):c.816A>G (p.Ser272=)	rs34685245	0.00211
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)	rs150339560	0.00078
NM_001184.4(ATR):c.325C>T (p.Arg109Trp)	rs146405935	0.00029
NM_001184.4(ATR):c.3120G>A (p.Leu1040=)	rs28910272

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