List of variants reported as benign for Seckel syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)	rs1802904	0.88595
NM_001184.4(ATR):c.5898+25T>G	rs7620648	0.66679
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.3725+18A>G	rs73864554	0.03416
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.293-20C>T	rs115097590	0.01504
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.5739-7_5739-6del	rs72371423	0.01173
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.268C>T (p.His90Tyr)	rs28897763	0.00813
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.6394T>G (p.Tyr2132Asp)	rs28910273	0.00349
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)	rs77208665	0.00340
NM_001184.4(ATR):c.7504-16A>G	rs111927479	0.00279
NM_001184.4(ATR):c.816A>G (p.Ser272=)	rs34685245	0.00211
NM_001184.4(ATR):c.2637C>T (p.Ala879=)	rs150512706	0.00105
NM_001184.4(ATR):c.4200A>T (p.Leu1400=)	rs150562945	0.00101
NM_001184.4(ATR):c.5070C>T (p.Ala1690=)	rs142881746	0.00092
NM_001184.4(ATR):c.3702C>T (p.Phe1234=)	rs146222193	0.00090
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)	rs150339560	0.00078
NM_001184.4(ATR):c.993C>T (p.Asp331=)	rs139379319	0.00058
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)	rs144938364	0.00056
NM_001184.4(ATR):c.325C>T (p.Arg109Trp)	rs146405935	0.00029
NM_001184.4(ATR):c.4641+9A>G	rs369284360	0.00015
NM_001184.4(ATR):c.7192+19A>G	rs376334522	0.00005
NM_001184.4(ATR):c.7192+18T>C	rs1349447137	0.00001
NM_001184.4(ATR):c.1885+65ATTT[8]	rs56661838
NM_001184.4(ATR):c.3120G>A (p.Leu1040=)	rs28910272
NM_001184.4(ATR):c.4153-10del	rs112116713
NM_001184.4(ATR):c.5739-14_5739-9del	rs72272981
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)	rs35498994

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.