List of variants in gene combination ATM, C11orf65 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	rs376676328	0.00019
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.6082del (p.Gln2028fs)	rs1565499093
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	rs587781672
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
NM_000051.4(ATM):c.8268+2T>C	rs1565544020
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	rs1555137973
NM_000051.4(ATM):c.8708del (p.Pro2903fs)

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