ClinVar Miner

List of variants reported as likely pathogenic by Institute for Genomic Medicine, Nationwide Children's Hospital

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Total variants: 8
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HGVS dbSNP
NM_000053.4(ATP7B):c.1947-19T>A rs1593733949
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) rs1470699812
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His) rs1569309484
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524

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