ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_000051.3(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292

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