ClinVar Miner

List of variants in gene PLEC reported as pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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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.10573C>T (p.Gln3525Ter) rs781837529 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter) rs1823561323 0.00001
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter) rs1554691029 0.00001
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter) rs1279778532 0.00001
NC_000008.10:g.(?_144990345)_(144996583_?)del
NC_000008.10:g.(?_145047551)_(145049537_?)del
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs) rs2133006435
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)
NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)
NM_201384.3(PLEC):c.1188_1192dup (p.Val398fs)
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) rs864309674
NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter) rs1554671979
NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs) rs2130817714
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter) rs1554669959
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs) rs2131949494
NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)
NM_201384.3(PLEC):c.2069_2073del (p.Arg690fs)
NM_201384.3(PLEC):c.2475dup (p.Asp826Ter)
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter) rs2131772658
NM_201384.3(PLEC):c.2551del (p.Val851fs) rs2131767962
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)
NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter) rs2131581257
NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) rs1554702689
NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)
NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter) rs2131471759
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) rs786205254
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter) rs2131422085
NM_201384.3(PLEC):c.5192dup (p.Leu1732fs)
NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)
NM_201384.3(PLEC):c.5645_5646del (p.Glu1882fs)
NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) rs786205251
NM_201384.3(PLEC):c.6025del (p.Glu2009fs)
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) rs387906801
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)
NM_201384.3(PLEC):c.6510del (p.His2170fs) rs2131325419
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter) rs2131284343
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter) rs886044894
NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter) rs376827900
NM_201384.3(PLEC):c.7425+1G>A
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) rs1554689309
NM_201384.3(PLEC):c.7964_7968del (p.Ala2655fs)
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) rs1186518181
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_201384.3(PLEC):c.8363_8366del (p.Leu2788fs)
NM_201384.3(PLEC):c.8776del (p.Glu2926fs)
NM_201384.3(PLEC):c.8807_8832dup (p.Phe2945fs)
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) rs137853161
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter) rs1410984638
NM_201384.3(PLEC):c.949del (p.Leu317fs)
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) rs1554681167
NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)

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