ClinVar Miner

List of variants in gene ATP7A reported as benign for Menkes disease

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn) rs1367140209
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.610+8G>A rs144616937
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992

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