ClinVar Miner

List of variants in gene MPV17 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23408
NM_002437.5(MPV17):c.180C>A (p.Gly60=) rs377148388 0.00036
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) rs112170670 0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter) rs863224074 0.00001
NM_002437.5(MPV17):c.375+2T>C rs1054997754 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002437.5(MPV17):c.71-1G>T rs751134093 0.00001
NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)
NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) rs754051090
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.139del (p.Gln47fs) rs2148216335
NM_002437.5(MPV17):c.187-2A>T
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.280-2del
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)
NM_002437.5(MPV17):c.354dup (p.Asn119fs)
NM_002437.5(MPV17):c.375+1G>A
NM_002437.5(MPV17):c.375+1G>T
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.461+1G>T
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.462-2A>C
NM_002437.5(MPV17):c.83G>T (p.Gly28Val)
NM_002437.5(MPV17):c.[122G>A];[71-2A>G]

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