List of variants reported as not provided for congenital muscular dystrophy by GenomeConnect, ClinGen

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G	rs148337125	0.01837
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	rs147077184	0.00338
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	rs56035053	0.00098
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	rs148038440	0.00066
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)	rs142264176	0.00026
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)	rs200698641	0.00008
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	rs368349321	0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)	rs760572086	0.00006
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	rs199534074	0.00004
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	rs200167715	0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)	rs1453508139	0.00002
NM_005198.5(CHKB):c.905A>T (p.Asp302Val)	rs775547378	0.00002
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)	rs201542066	0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His)	rs756132642	0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	rs267607555	0.00001
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)	rs1278777348
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	rs1439633596
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)	rs1482793424
NM_002206.3(ITGA7):c.671-285A>G	rs1873675449
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	rs2106349155
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)	rs750726658
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)	rs186690580
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)	rs150325234
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)	rs1572366516
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	rs61195471
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)	rs150415034

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