ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
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.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5986G>T (p.Glu1996Ter) rs2084252910
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6298del (p.Tyr2100fs) rs2136167939
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) rs863224578
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7591dup (p.Met2531fs)
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8695del (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8781_8786+2del rs1591307438
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_001330368.2(C11orf65):c.641-34150del rs1555135341

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