List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by Mendelics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)	rs758524310	0.00001
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)	rs759187460	0.00001
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)	rs2101055022
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr)	rs2132133868
NM_001376.5(DYNC1H1):c.3961-2A>G	rs1595608413
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)	rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)	rs373682811
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)	rs879254011
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)	rs1557522849
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)	rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)	rs1557524703
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)	rs28940294

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