List of variants in gene ATM reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)	rs146382972	0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)	rs149636614	0.00079
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	rs140856217	0.00046
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	rs2229022	0.00032
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)	rs141921797	0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)	rs201666889	0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	rs35963548	0.00026
NM_000051.3(ATM):c.-371G>C	rs890835455	0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	rs137882485	0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	rs145119475	0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)	rs555219189	0.00018
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	rs147600485	0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	rs150143957	0.00013
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	rs3092907	0.00011
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)	rs587778075	0.00007
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	rs202208861	0.00007
NM_000051.3(ATM):c.-218T>A	rs886047609	0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)	rs769106895	0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His)	rs142317485	0.00006
NM_000051.4(ATM):c.659C>T (p.Ala220Val)	rs145355104	0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)	rs587779816	0.00004
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)	rs200124136	0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met)	rs148191382	0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)	rs587781296	0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	rs141087784	0.00004
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)	rs377597949	0.00003
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)	rs760676955	0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)	rs587782163	0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)	rs587778073	0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)	rs35184530	0.00002
NM_000051.3(ATM):c.-282T>G	rs1301840777	0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His)	rs554805703	0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)	rs863224564	0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)	rs730881365	0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)	rs754181173	0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)	rs141329176	0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)	rs779718362	0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)	rs786203857	0.00001
NM_000051.3(ATM):c.-241G>C	rs1800065
NM_000051.3(ATM):c.-327T>C	rs557572386
NM_000051.4(ATM):c.165G>C (p.Leu55Phe)	rs1555054230
NM_000051.4(ATM):c.1679A>T (p.Glu560Val)	rs762476611
NM_000051.4(ATM):c.1802+35_1802+36del	rs749339972
NM_000051.4(ATM):c.1990A>G (p.Thr664Ala)	rs797045319
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)	rs754033733
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)	rs1555073490
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)	rs768874297
NM_000051.4(ATM):c.2176C>T (p.Leu726Phe)	rs775266056
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)	rs2135034894
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)	rs749844591
NM_000051.4(ATM):c.2838G>A (p.Met946Ile)
NM_000051.4(ATM):c.3157G>A (p.Asp1053Asn)	rs876660172
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)	rs2082115524
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)	rs1064795850
NM_000051.4(ATM):c.3510A>G (p.Lys1170=)	rs2135668576
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)	rs587782035
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)	rs1555093665
NM_000051.4(ATM):c.3994-12G>T	rs1057520398
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)	rs774886013
NM_000051.4(ATM):c.4532A>G (p.Asp1511Gly)	rs1591674356
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly)	rs1555100455
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)	rs1060501524
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile)	rs1555105650
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)	rs760060843
NM_000051.4(ATM):c.5546T>C (p.Ile1849Thr)	rs2135943454
NM_000051.4(ATM):c.6T>G (p.Ser2Arg)	rs748158168
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)	rs769166447

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