ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2P by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695

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