ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085 0.00075
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986 0.00010
NM_181882.3(PRX):c.1402G>A (p.Val468Met) rs763489447 0.00006
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295 0.00002
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter) rs756689732 0.00002
NM_018972.4(GDAP1):c.298A>G (p.Thr100Ala) rs1176333705 0.00001
NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys) rs760573105 0.00001
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_001005373.4(LRSAM1):c.119del (p.Glu40fs) rs1588090984
NM_001136472.2(LITAF):c.302del (p.Lys101fs) rs1597329350
NM_001136472.2(LITAF):c.377+1760_377+1763inv
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys) rs750686775
NM_001303256.3(MORC2):c.2795del (p.Lys932fs) rs1602477282
NM_001365951.3(KIF1B):c.2115+6548G>A rs781257253
NM_001365951.3(KIF1B):c.2115+7342C>T rs1569778738
NM_001376.5(DYNC1H1):c.148del (p.Ala50fs) rs1595590195
NM_001376.5(DYNC1H1):c.7931C>T (p.Thr2644Ile) rs1595617838
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro) rs199966256
NM_001605.3(AARS1):c.2174del (p.Gly725fs) rs1597435167
NM_001605.3(AARS1):c.660C>G (p.Ile220Met) rs1422332765
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.898G>A (p.Ala300Thr) rs774416609
NM_014845.6(FIG4):c.2132del (p.Ser711fs) rs1583738240
NM_014874.4(MFN2):c.136del (p.Leu46fs) rs1569803014
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.1002-8del rs1580903964
NM_024577.4(SH3TC2):c.2015del (p.Val672fs) rs1580900610
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro) rs112337746
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_181882.3(PRX):c.119_120del (p.Glu40fs) rs1599662852
NM_181882.3(PRX):c.2612T>C (p.Val871Ala) rs201389706
NM_181882.3(PRX):c.2615dup (p.Ala873fs) rs374001049
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851

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