ClinVar Miner

List of variants reported as not provided by Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry

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Total variants: 10
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HGVS dbSNP
NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn) rs587776496
NM_000182.5(HADHA):c.2083G>A (p.Ala695Thr) rs587776501
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp) rs587776503
NM_001093.4(ACACB):c.6964G>A (p.Ala2322Thr) rs587776495
NM_002489.4(NDUFA4):c.77C>T (p.Ala26Val) rs587776505
NM_016417.3(GLRX5):c.129G>C (p.Glu43Asp) rs587776500
NM_017547.4(FOXRED1):c.1341del (p.Ile448fs) rs587776499
NM_017990.4(PDPR):c.85A>G (p.Thr29Ala) rs200469748
NM_153006.3(NAGS):c.505A>T (p.Met169Leu) rs569174201

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