ClinVar Miner

List of variants in gene MPV17 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
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.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.375+2T>C rs1054997754 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.409-1G>C rs886044280 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002437.5(MPV17):c.70+5G>A rs267607268 0.00001
NM_002437.5(MPV17):c.71-1G>T rs751134093 0.00001
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
NM_002437.5(MPV17):c.191C>T (p.Pro64Leu) rs375401970
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.278_279+24del
NM_002437.5(MPV17):c.280-1G>T
NM_002437.5(MPV17):c.280-2A>G
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002437.5(MPV17):c.293C>A (p.Pro98Gln)
NM_002437.5(MPV17):c.375+1G>A
NM_002437.5(MPV17):c.375+1G>T
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.70+1G>A
NM_002437.5(MPV17):c.71-2A>G rs2148216461

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