ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial neurogastrointestinal encephalomyopathy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_002693.3(POLG):c.502G>C (p.Ala168Pro) rs2055619068

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