ClinVar Miner

List of variants in gene POMT2 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818

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