List of variants in gene ATM reported by Spanish ATM Cancer Susceptibility Variant Interpretation Working Group

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00242
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	rs3218690	0.00200
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=)	rs144709948	0.00166
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00133
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	rs145119475	0.00017
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)	rs376603775	0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)	rs730881369	0.00003
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	rs879254093	0.00001
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)	rs750897021	0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	rs587782506	0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	rs762083530	0.00001
NM_000051.4(ATM):c.1380G>C (p.Thr460=)	rs145333518
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp)	rs1040176168
NM_000051.4(ATM):c.2386A>C (p.Asn796His)	rs201793499
NM_000051.4(ATM):c.2839-2A>G	rs1060501703
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.2921+1G>T	rs587781558
NM_000051.4(ATM):c.3747-1G>C	rs730881364
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4110-9C>G	rs730881367
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)	rs2135928197
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)	rs1565344141
NM_000051.4(ATM):c.826A>G (p.Lys276Glu)	rs587782902

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