ClinVar Miner

List of variants in gene ATM reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.1119dup (p.Gln374fs) rs2079992934
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3873T>G (p.Leu1291=) rs1565447438
NM_000051.4(ATM):c.4611+1G>A rs1565461840
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs) rs2083336878
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171

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