List of variants in gene ATM reported as pathogenic by OMIM

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.3118A>G (p.Met1040Val)	rs3092857	0.01233
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	rs55861249
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)	rs121434222
NM_000051.4(ATM):c.4776+2T>C	rs587781927
NM_000051.4(ATM):c.496+5G>A	rs796051858
NM_000051.4(ATM):c.5044G>C (p.Asp1682His)	rs121434217
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)	rs121434223

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