ClinVar Miner

List of variants in gene ATP7A reported as pathogenic for eyelid disorder

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
ATP7A, 8-BP DEL, NT1552
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77227139)_(77271398_?)del
NC_000023.10:g.(?_77227139)_(77289339_?)del
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77264579)_(77268629_?)del
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77268356)_(77271398_?)del
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77300947)_(77302067_?)del
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1544-872C>G
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs)
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)

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