ClinVar Miner

Variants in gene ATM with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
Single allele

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