ClinVar Miner

List of variants in gene ATM studied for female reproductive organ cancer

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 0.00021
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.4032G>C (p.Val1344=) rs769871715 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.1013A>G (p.Asn338Ser)
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.4(ATM):c.3403-14_3403-13insG rs1555091097
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.4(ATM):c.4674_4695del (p.Ile1559fs) rs2135811484
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
Single allele

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