List of variants reported as likely pathogenic for congenital muscular dystrophy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)	rs369169235	0.00010
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)	rs1429464723	0.00002
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)	rs2078408746	0.00001
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)	rs1554766855
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)	rs1471465037
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)	rs1603590649
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe)	rs2123661865
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu)	rs766298888
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496

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