List of variants in gene combination ATM, C11orf65 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
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.7630-2A>C	rs587779866	0.00001
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.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	rs878853535
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)	rs758588019
NM_000051.4(ATM):c.8137_8138insC (p.Arg2713fs)	rs2086690343
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8695del (p.Ile2899fs)	rs1555142816

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