List of variants in gene ATM reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	rs587779818	0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	rs777849257	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	rs587779833	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	rs781404312	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	rs587780612
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.1802+1del	rs2497275396
NM_000051.4(ATM):c.1880dup (p.Gln628fs)	rs786202474
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)	rs730881369
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)	rs730881304
NM_000051.4(ATM):c.5318del (p.Lys1773fs)	rs876660289
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.640del (p.Ser214fs)	rs786204543
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	rs1555066551
NM_000051.4(ATM):c.706_707del (p.Leu236fs)	rs2497147888
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)	rs876659003
Single allele

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