ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly) rs370567994 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn) rs775921052 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.6401C>G (p.Ser2134Cys) rs2136220770
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.4(ATM):c.6718_6719delinsTT (p.Asp2240Phe) rs2136314186
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.7122A>G (p.Glu2374=) rs376159946
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala) rs2137288475
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033

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