ClinVar Miner

List of variants in gene ATM reported as likely pathogenic by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.1608-2A>G rs2135338498
NM_000051.4(ATM):c.1817_1818del (p.Leu606fs) rs2135352900
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter) rs2080483369
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3485del (p.Leu1162fs) rs2082207948
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3997_3998insCCACCATGCCAGGCTTCTGCGGATGCTTATACGCCTTCAAACCACCGGCCAGCTTGCCCTCCTGCGTGAAGGGAACCGAT (p.Asp1333fs) rs2135735043
NM_000051.4(ATM):c.4374_4377dup (p.Ala1460fs) rs2135764458
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter) rs2135800044
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335

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