ClinVar Miner

List of variants in gene ATP7A reported as benign by GeneDx

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.-22+117T>C rs2184780 0.99913
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.2781+141G>A rs7053543 0.25168
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.4123+288A>G rs112181954 0.24240
NM_000052.7(ATP7A):c.120+328G>C rs113665704 0.05655
NM_000052.7(ATP7A):c.3658+136_3658+137del rs10591781 0.05437
NM_000052.7(ATP7A):c.*267A>G rs151132335 0.02304
NM_000052.7(ATP7A):c.*208A>G rs142059968 0.01260
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.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000052.7(ATP7A):c.120+43G>A rs200365512 0.00247
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000052.7(ATP7A):c.2173-24A>G rs373061724 0.00086
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
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.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.1543+86dup rs112508476
NM_000052.7(ATP7A):c.1544-273AC[19] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[20] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[21] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[23] rs781808445
NM_000052.7(ATP7A):c.2173-269del rs782360257
NM_000052.7(ATP7A):c.2782-253del rs200190598
NM_000052.7(ATP7A):c.3112-66= rs5902762
NM_000052.7(ATP7A):c.3659-42= rs5913631
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245

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