ClinVar Miner

List of variants reported as pathogenic by Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
Single allele

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