List of variants in gene ATM reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	rs587779818	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	rs775036118	0.00001
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs)	rs1555092425
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	rs587781831
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)	rs730881309
NM_000051.4(ATM):c.4467del (p.Ser1490fs)	rs2135798153

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