ClinVar Miner

List of variants in gene ATP7B reported as not provided by GenomeConnect, ClinGen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570

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