ClinVar Miner

List of variants reported as pathogenic by Centro de Genética y Biología Molecular, Universidad de San Martín de Porres

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) rs878854408
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_004006.3(DMD):c.10409del (p.Leu3470fs) rs2039782181
NM_004006.3(DMD):c.131dup (p.Gln45fs) rs2080984178
NM_004006.3(DMD):c.2348C>G (p.Ser783Ter) rs2044079791
NM_004006.3(DMD):c.2945T>A (p.Leu982Ter) rs2040710629
NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter) rs2098349160
NM_004006.3(DMD):c.44del (p.Asp15fs) rs2093886453
NM_004006.3(DMD):c.4675-1G>A rs2097921115
NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter) rs2097920506
NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter) rs2097747311
NM_004006.3(DMD):c.7618_7619del (p.Lys2540fs) rs2086354048
NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter) rs2082258116
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.4647_4648dup (p.Thr1550fs) rs869025213
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn) rs1553534421

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