List of variants in gene ATM reported as pathogenic by Athena Diagnostics

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	rs1060501687	0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	rs781404312	0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	rs587779844	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.2921+1G>A	rs587781558
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.640del (p.Ser214fs)	rs786204543

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