ClinVar Miner

List of variants in gene AP4M1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_004722.4(AP4M1):c.544-6T>G rs372511561 0.00046
NM_004722.4(AP4M1):c.777G>A (p.Val259=) rs144253083 0.00041
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) rs147738731 0.00023
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=) rs372787797 0.00009
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val) rs777592786 0.00006
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_004722.4(AP4M1):c.1069G>T (p.Ala357Ser) rs762843731 0.00003
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser) rs751435731 0.00003
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) rs757747386 0.00003
NM_004722.4(AP4M1):c.673+7C>T rs753446678 0.00003
NM_004722.4(AP4M1):c.762G>A (p.Ser254=) rs774302896 0.00003
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val) rs573143488 0.00001
NM_004722.4(AP4M1):c.189C>T (p.Gly63=) rs367614875 0.00001
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp) rs797045250 0.00001
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe) rs200722903 0.00001
NM_004722.4(AP4M1):c.753T>C (p.Asp251=) rs962896326 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004722.4(AP4M1):c.1065G>A (p.Glu355=) rs1554381297
NM_004722.4(AP4M1):c.279C>T (p.Tyr93=) rs797045248
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004722.4(AP4M1):c.862G>A (p.Asp288Asn) rs767611212

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