List of variants reported as pathogenic for Mitochondrial myopathy-lactic acidosis-deafness syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs)	rs774184465
NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter)	rs1462456361
NM_001256007.3(PNPLA8):c.524del (p.Ser175fs)
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs)	rs786205882
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)

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