List of variants in gene combination ATM, C11orf65 reported as pathogenic by Natera, Inc.

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	rs587781722	0.00021
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00006
NM_000051.4(ATM):c.5763-1050A>G	rs774925473	0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	rs730881294	0.00003
NM_000051.4(ATM):c.8786+1G>A	rs17174393	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)	rs1060501536	0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000051.4(ATM):c.6997dup	rs587781299	0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	rs587779865	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	rs778269655	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	rs587778080	0.00001
NM_000051.4(ATM):c.8988-1G>C	rs730881386	0.00001
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)	rs1438576066
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6228del (p.Leu2077fs)	rs786203008
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	rs878853535
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)	rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs)	rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	rs587781967
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8418+5_8418+8del	rs730881295
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)	rs587781363
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	rs770641163
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)	rs876660022

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