ClinVar Miner

List of variants studied for Wilson disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) rs1956914257 0.00001
NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe) rs375692175 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.2(ATP7B):c.-362C>T
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)
NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly)
NM_000053.4(ATP7B):c.2930C>A (p.Thr977Lys)
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs) rs1957654399
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr) rs2138948476
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.4103T>C (p.Leu1368Pro)
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.4319G>T (p.Arg1440Leu)
NM_015278.5(SASH1):c.2300C>T (p.Pro767Leu)

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