List of variants reported as uncertain significance for congenital muscular dystrophy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)	rs200390529	0.00025
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	rs369292604	0.00017
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)	rs769795690	0.00006
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)	rs749760185	0.00005
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)	rs375640462	0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)	rs1235556906	0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)	rs201337277	0.00003
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)	rs578183193	0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)	rs745485695	0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)	rs755052076	0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)	rs778403814	0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)	rs766458058	0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)	rs1013873051	0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His)	rs1349031936	0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	rs267607613	0.00001
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)	rs1554287445
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)	rs1299914386
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val)	rs778258870
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala)	rs1554226736
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu)	rs762958440
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)	rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)	rs1568940242
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala)	rs1569052732
NM_013382.7(POMT2):c.334-3C>A	rs1566658848
NM_017739.4(POMGNT1):c.355-3T>G	rs1553163972
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser)	rs201227908
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu)	rs902286336
NR_027928.2(CHKB-CPT1B):n.772_780del	rs1603443745

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