ClinVar Miner

List of variants in gene LOC130001334, PLEC studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.1263+8_1263+9insCAGCA rs782124502 0.01668
NM_201384.3(PLEC):c.1263+6_1263+7insCAGTCGGTGA rs782710802 0.01665
NM_201384.3(PLEC):c.1236G>A (p.Leu412=) rs190791617 0.00443
NM_201384.3(PLEC):c.1262C>T (p.Ser421Leu) rs200848972 0.00007
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn) rs782674838 0.00002
NM_201384.3(PLEC):c.1228G>A (p.Glu410Lys) rs1828207867
NM_201384.3(PLEC):c.1233G>T (p.Gln411His) rs782308508
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter) rs1554719990
NM_201384.3(PLEC):c.1245C>G (p.Ala415=) rs782527499
NM_201384.3(PLEC):c.1245C>T (p.Ala415=)
NM_201384.3(PLEC):c.1247_1248delinsTT (p.Asp416Val)
NM_201384.3(PLEC):c.1248C>A (p.Asp416Glu) rs572481168
NM_201384.3(PLEC):c.1248C>T (p.Asp416=) rs572481168
NM_201384.3(PLEC):c.1249G>A (p.Ala417Thr) rs781879136
NM_201384.3(PLEC):c.1252C>G (p.Leu418Val) rs782155361
NM_201384.3(PLEC):c.1254G>C (p.Leu418=)
NM_201384.3(PLEC):c.1261T>C (p.Ser421Pro) rs2132009259
NM_201384.3(PLEC):c.1263+10_1263+11insCGGTGAGGCAGCAGTCG rs782042350
NM_201384.3(PLEC):c.1263+14_1263+15insGTGGCAGCAGTCG
NM_201384.3(PLEC):c.1263+15G>A
NM_201384.3(PLEC):c.1263+16G>T
NM_201384.3(PLEC):c.1263+6G>C
NM_201384.3(PLEC):c.1263+6G>T rs782820595
NM_201384.3(PLEC):c.1263+7G>C rs564072063
NM_201384.3(PLEC):c.1263+7_1263+8delinsCA rs1554719894
NM_201384.3(PLEC):c.1263+8G>A rs545715431
NM_201384.3(PLEC):c.1263G>C (p.Ser421=)

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