ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Genesis Genome Database

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Total variants: 24
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HGVS dbSNP
NC_000011.10:g.68934512_68934513GT[3]
NM_001113491.2(SEPTIN9):c.722-6624T>C
NM_001303256.3(MORC2):c.1369+8_1369+9del
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001540.5(HSPB1):c.365-67C>T
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
NM_015074.3(KIF1B):c.1977+7159A>G
NM_015074.3(KIF1B):c.1977+7161C>A
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*4264_*4266GGA[6] rs139624657
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln)
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)
NM_138361.5(LRSAM1):c.2047-3C>T

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