ClinVar Miner

List of variants in gene ATM reported as benign by Genome-Nilou Lab

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000051.4(ATM):c.2377-56A>G rs672655 0.48759
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03133
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02129
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681

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