List of variants in gene ATM reported as pathogenic by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	rs730881333	0.00003
NM_000051.4(ATM):c.3244_3245insTG (p.His1082fs)	rs761486324	0.00001
NM_000051.4(ATM):c.3247del (p.His1083fs)	rs767099464	0.00001
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)	rs1064794236
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	rs587780624
NM_000051.4(ATM):c.5762+1G>A	rs869312756

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