ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4B3

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Total variants: 30
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HGVS dbSNP
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.1947T>A (p.Pro649=)
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.219C>T (p.Ile73=)
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=)
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=)
NM_002972.4(SBF1):c.3826+1G>A
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.3905-9C>T
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=)
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_002972.4(SBF1):c.4813-18C>T
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=)
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)
NM_002972.4(SBF1):c.898-4G>A rs377428323

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