List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2O

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)	rs2048519381
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)	rs1567019064
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His)	rs2152592202
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)	rs2047932647
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr)	rs2047933165
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT
NM_001376.5(DYNC1H1):c.3372T>A (p.His1124Gln)
NM_001376.5(DYNC1H1):c.3961-2A>G	rs1595608413
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)	rs1327664377
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp)	rs377013246
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)	rs1555409418
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)	rs1595597572
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)	rs1057518287
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)	rs1057518961
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)	rs1595597963
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)	rs2152590132
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)	rs373682811

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