ClinVar Miner

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

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
NM_000051.3(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.7517_7520delGAGA rs587781905
NM_000051.3(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294
NM_000051.3(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.3(ATM):c.8988-1G>C rs730881386
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_001351834.2(ATM):c.5763-1050A>G rs774925473

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