List of variants in gene ATM reported as not provided for ataxia telangiectasia

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	rs147600485	0.00014
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	rs779297339	0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	rs147915571	0.00006
NM_000051.4(ATM):c.1352G>A (p.Arg451His)	rs554805703	0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	rs587779818	0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)	rs864622490	0.00001
NM_000051.4(ATM):c.496+3A>G	rs876658311	0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)	rs199836342	0.00001
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)	rs772591447
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)	rs587782212
NM_000051.4(ATM):c.1A>G (p.Met1Val)	rs730881359
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)	rs1555082209
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	rs786203054
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)	rs786203618
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)	rs1448017467
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)	rs373213507
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)	rs587781857

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