ClinVar Miner

List of variants in gene ATP7A reported as benign for not specified

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2407-184G>T rs5959964 0.26375
NM_000052.7(ATP7A):c.2782-29C>A rs113968994 0.25602
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His) rs1139445 0.00001
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu) rs797045326
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr) rs2234935
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245

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