ClinVar Miner

List of variants in gene ATP7A studied for Cutis laxa, X-linked

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
ATP7A, 8-BP DEL, NT1552
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.1537G>A (p.Glu513Lys) rs1569549699
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
NM_000052.7(ATP7A):c.1544-872C>G
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu) rs1234971496
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2406+3A>T
NM_000052.7(ATP7A):c.2407-433A>G
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter) rs2149097380
NM_000052.7(ATP7A):c.2771A>G (p.Gln924Arg)
NM_000052.7(ATP7A):c.2916+2480T>G
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.3111+4A>C
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3293A>C (p.Gln1098Pro)
NM_000052.7(ATP7A):c.3294+763C>G
NM_000052.7(ATP7A):c.3511+5G>A
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs) rs2078084722
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355

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