ClinVar Miner

List of variants in gene ZFYVE26 reported as likely pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) rs558285072 0.00002
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994 0.00002
NM_015346.4(ZFYVE26):c.1017+1G>T rs1224762841 0.00001
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) rs981804211 0.00001
NM_015346.4(ZFYVE26):c.2333-1G>C rs746606852 0.00001
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632 0.00001
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) rs868672014 0.00001
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.2248+2T>C rs1555399278
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2401+1G>T rs1555398778
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) rs768176054
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) rs1555398241
NM_015346.4(ZFYVE26):c.3020-1G>A rs1555397638
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.3626+1G>C rs1555397310
NM_015346.4(ZFYVE26):c.363+1G>A rs935301743
NM_015346.4(ZFYVE26):c.363+2T>G rs760001730
NM_015346.4(ZFYVE26):c.4798-1G>T rs1555396303
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) rs1214483973
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015346.4(ZFYVE26):c.5484+1G>T rs1555395524
NM_015346.4(ZFYVE26):c.5484+1del rs1555395525
NM_015346.4(ZFYVE26):c.5485-2A>G rs1555395288
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter) rs1555394824
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) rs771393692
NM_015346.4(ZFYVE26):c.7371+1G>A rs1555393181
NM_015346.4(ZFYVE26):c.7416+2T>C rs1555393005

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