List of variants in gene ATM reported as pathogenic by PreventionGenetics, part of Exact Sciences

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
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.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	rs587781598
NM_000051.4(ATM):c.138_141del (p.His46fs)	rs786203370
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.2250+1G>A	rs1565395193
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)	rs876658502
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)	rs786201886
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.3850del (p.Thr1284fs)	rs876660865
NM_000051.4(ATM):c.4111del	rs797045114
NM_000051.4(ATM):c.4410T>G (p.Tyr1470Ter)
NM_000051.4(ATM):c.4612-3_4616del	rs773012957
NM_000051.4(ATM):c.4929del (p.Met1644fs)	rs2083175858

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