List of variants in gene combination ATM, C11orf65 reported as likely pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000051.4(ATM):c.6348-1G>A	rs1057517302
NM_000051.4(ATM):c.8010+1del	rs876659350
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.8268+1G>T	rs876658957
NM_000051.4(ATM):c.8585-2A>C	rs1060501700
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000051.4(ATM):c.9146del (p.Phe3049fs)	rs1555152058

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