ClinVar Miner

List of variants in gene ATM reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.497-4del rs768748099

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