ClinVar Miner

List of variants in gene MPV17 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23694
NM_002437.5(MPV17):c.462-267T>G rs187628677 0.01287
NM_002437.5(MPV17):c.461+40C>T rs79111575 0.01283
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_002437.5(MPV17):c.*12T>G rs201202659 0.00080
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00013
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00011
NM_002437.5(MPV17):c.407A>G (p.Tyr136Cys) rs374692755 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00007
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.301C>G (p.Leu101Val) rs369706595 0.00004
NM_002437.5(MPV17):c.-12C>T rs1481544815 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.194T>C (p.Val65Ala) rs140888121 0.00002
NM_002437.5(MPV17):c.294G>A (p.Pro98=) rs747567003 0.00002
NM_002437.5(MPV17):c.374G>A (p.Arg125Gln) rs766486395 0.00002
NM_002437.5(MPV17):c.461+173C>T rs563543186 0.00002
NM_002437.5(MPV17):c.*11C>G rs1057523263 0.00001
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.196G>T (p.Val66Leu) rs863224073 0.00001
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter) rs863224074 0.00001
NM_002437.5(MPV17):c.461+17C>A rs370284261 0.00001
NM_002437.5(MPV17):c.524G>A (p.Arg175Gln) rs746180658 0.00001
NM_002437.5(MPV17):c.70+5G>A rs267607268 0.00001
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.375+48dup rs5830041
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002437.5(MPV17):c.408+1G>A rs749361266
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113

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