ClinVar Miner

List of variants reported as uncertain significance for ataxia telangiectasia by Genome-Nilou Lab

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu) rs202160435
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln) rs786202686
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His) rs1180341161
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582

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.