ClinVar Miner

List of variants reported as uncertain significance by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.16159C>A rs2124599393
NC_012920.1(MT-CYB):m.16182_16183del rs371240719
NC_012920.1(MT-CYB):m.16230A>G rs2853514
NC_012920.1(MT-CYB):m.16274G>A rs144095641
NC_012920.1(MT-CYB):m.16319G>A rs35105996
NC_012920.1(MT-CYB):m.235A>G rs3937037
NC_012920.1(MT-CYB):m.249del rs879043227
NC_012920.1(MT-CYB):m.515AC[4] rs78907894
NC_012920.1(MT-CYB):m.8272CCCCCTCTA[1] rs369704279
NC_012920.1(MT-ND1):m.1736A>G rs193303006
NC_012920.1(MT-ND6):m.14668C>T rs28357678
NM_000157.4(GBA1):c.1077C>A (p.Ala359=) rs1671753933

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