ClinVar Miner

List of variants in gene PLEC reported as pathogenic for not provided

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_201384.3(PLEC):c.4675C>T (p.Arg1559Ter) rs782185897 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NM_201384.3(PLEC):c.6195dup (p.Gln2066fs) rs1554693937 0.00001
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_201384.3(PLEC):c.11287_11288del (p.Ser3763fs) rs886044796
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter) rs864309634
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs) rs2131949494
NM_201384.3(PLEC):c.2111G>A (p.Trp704Ter) rs2131871071
NM_201384.3(PLEC):c.2328_2329insGT (p.Tyr777fs) rs1554714095
NM_201384.3(PLEC):c.2414dup (p.Arg806fs) rs1587035726
NM_201384.3(PLEC):c.341_342del (p.Gln114fs) rs1554724125
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter) rs886044836
NM_201384.3(PLEC):c.5774_5775del (p.Glu1925fs) rs1586903449
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter) rs864309635
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter) rs886044894
NM_201384.3(PLEC):c.7531C>T (p.Gln2511Ter) rs1057517938
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) rs1186518181
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) rs1554683108
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) rs1554681167
NM_201384.3(PLEC):c.9598_9685del (p.Asp3202fs) rs1586813574

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