List of variants in gene PLEC reported as uncertain significance for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 61

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)	rs193257576	0.00321
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)	rs200239963	0.00153
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)	rs376665854	0.00107
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)	rs200206105	0.00073
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)	rs201667254	0.00072
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)	rs782278608	0.00036
NM_201384.3(PLEC):c.6162C>T (p.His2054=)	rs563719398	0.00034
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)	rs201916690	0.00033
NM_201378.4(PLEC):c.71-11768C>T	rs200878086	0.00028
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)	rs201855218	0.00018
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala)	rs370431965	0.00015
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)	rs201278290	0.00012
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val)	rs375178454	0.00011
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val)	rs372179538	0.00011
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)	rs573424409	0.00010
NM_201384.3(PLEC):c.5414G>A (p.Arg1805His)	rs782438887	0.00009
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His)	rs782151802	0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)	rs376555091	0.00006
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln)	rs577374823	0.00006
NM_201384.3(PLEC):c.6701G>A (p.Arg2234His)	rs369374252	0.00006
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln)	rs541098488	0.00006
NM_201384.3(PLEC):c.9815G>A (p.Arg3272His)	rs571590501	0.00006
NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro)	rs186417404	0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)	rs369581930	0.00005
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp)	rs781877536	0.00004
NM_201378.4(PLEC):c.71-5086G>A	rs372851346	0.00004
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys)	rs200620255	0.00004
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)	rs200176579	0.00004
NM_201378.4(PLEC):c.71-5101C>T	rs782610872	0.00003
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln)	rs369570610	0.00003
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser)	rs373807877	0.00003
NM_201384.3(PLEC):c.3407G>A (p.Arg1136Gln)	rs782508056	0.00003
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met)	rs534267486	0.00003
NM_201384.3(PLEC):c.6018G>A (p.Ala2006=)	rs782381723	0.00003
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln)	rs546512137	0.00003
NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr)	rs781931836	0.00003
NM_201384.3(PLEC):c.9755C>T (p.Thr3252Met)	rs781828296	0.00003
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)	rs377125427	0.00002
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys)	rs371749261	0.00002
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro)	rs781861668	0.00001
NM_201384.3(PLEC):c.3623A>C (p.Gln1208Pro)	rs1441764984	0.00001
NM_201384.3(PLEC):c.3638G>A (p.Arg1213His)	rs782011338	0.00001
NM_201384.3(PLEC):c.3766G>C (p.Glu1256Gln)	rs1384763800	0.00001
NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg)	rs782377096	0.00001
NM_201384.3(PLEC):c.4346G>A (p.Arg1449His)	rs561225406	0.00001
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp)	rs781802082	0.00001
NM_201378.4(PLEC):c.71-11623C>T	rs560175252
NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu)	rs200328762
NM_201384.3(PLEC):c.1737+11C>G
NM_201384.3(PLEC):c.1882G>A (p.Glu628Lys)	rs1554717101
NM_201384.3(PLEC):c.2852G>C (p.Arg951Pro)	rs782775290
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup)	rs782308502
NM_201384.3(PLEC):c.3301_3302delinsTT (p.Ala1101Phe)	rs2131627729
NM_201384.3(PLEC):c.3442G>T (p.Ala1148Ser)	rs370869846
NM_201384.3(PLEC):c.4169C>T (p.Ala1390Val)	rs781873089
NM_201384.3(PLEC):c.472A>G (p.Met158Val)	rs1554722990
NM_201384.3(PLEC):c.5329_5330inv (p.Glu1777Ser)
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
NM_201384.3(PLEC):c.7537_7538delinsGC (p.Lys2513Ala)	rs1554689196
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val)	rs1017632168
NM_201384.3(PLEC):c.983A>C (p.Glu328Ala)	rs1564148072

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