ClinVar Miner

List of variants in gene PLEC reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) rs200668859 0.00027
NM_201384.3(PLEC):c.1771C>T (p.Arg591Cys) rs376215217 0.00021
NM_201384.3(PLEC):c.8981G>A (p.Arg2994His) rs200970115 0.00016
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly) rs369344419 0.00014
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00013
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) rs201455467 0.00013
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201384.3(PLEC):c.10607C>T (p.Thr3536Met) rs200187936 0.00010
NM_201384.3(PLEC):c.9604G>A (p.Asp3202Asn) rs782598101 0.00010
NM_201384.3(PLEC):c.5014G>A (p.Glu1672Lys) rs782791575 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg) rs202037264 0.00007
NM_201384.3(PLEC):c.10852A>G (p.Met3618Val) rs376442504 0.00006
NM_201384.3(PLEC):c.6398C>T (p.Ala2133Val) rs782011662 0.00006
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu) rs200407723 0.00006
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) rs782134827 0.00005
NM_201384.3(PLEC):c.1658C>T (p.Ala553Val) rs745403009 0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_201384.3(PLEC):c.10849C>T (p.Arg3617Cys) rs781877026 0.00004
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr) rs541209817 0.00004
NM_201384.3(PLEC):c.12731G>A (p.Arg4244His) rs370769102 0.00004
NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu) rs368507062 0.00004
NM_201384.3(PLEC):c.6017C>T (p.Ala2006Val) rs376537341 0.00004
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp) rs531396914 0.00004
NM_201384.3(PLEC):c.10408G>A (p.Ala3470Thr) rs377602333 0.00003
NM_201384.3(PLEC):c.4313G>A (p.Arg1438Gln) rs782642707 0.00003
NM_201384.3(PLEC):c.6299C>T (p.Ala2100Val) rs782711037 0.00003
NM_201384.3(PLEC):c.4697C>T (p.Ala1566Val) rs1407991375 0.00002
NM_201384.3(PLEC):c.6347G>A (p.Arg2116Gln) rs369095717 0.00002
NM_201384.3(PLEC):c.11459T>C (p.Leu3820Pro) rs1269992508 0.00001
NM_201384.3(PLEC):c.5093G>A (p.Arg1698Gln) rs782361396 0.00001
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) rs373863249
NM_201384.3(PLEC):c.13579T>C (p.Tyr4527His) rs1286310928
NM_201384.3(PLEC):c.5723G>T (p.Arg1908Leu)
NM_201384.3(PLEC):c.7166T>C (p.Val2389Ala) rs782669267
NM_201384.3(PLEC):c.9339C>G (p.Ser3113Arg)

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