List of variants in gene PLEC studied for Autosomal recessive limb-girdle muscular dystrophy

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)	rs538589589	0.00038
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met)	rs368122904	0.00013
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)	rs2540060629
NM_201384.3(PLEC):c.2740-3C>A	rs782178702
NM_201384.3(PLEC):c.4543G>A (p.Val1515Met)
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)	rs199504105

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