List of variants reported as likely pathogenic for congenital muscular dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.1A>G (p.Met1Val)	rs121908184	0.00005
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004
NM_000426.4(LAMA2):c.2451-2A>G	rs993196576	0.00003
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)	rs749566145	0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	rs398124244	0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	rs727502855	0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	rs770711331	0.00002
NM_000426.4(LAMA2):c.8244+1G>A	rs749522728	0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)	rs1463264889	0.00001
NM_001077365.2(POMT1):c.986+1G>A	rs961071228	0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	rs199564797	0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	rs104894681	0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	rs752582904	0.00001
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274	0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)	rs398123368
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)	rs1480934961
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	rs1554227092
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	rs767865405
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	rs760731888
NM_001079802.2(FKTN):c.648-1243G>T	rs1554754182
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	rs377417974
NM_001848.3(COL6A1):c.1575+1G>A	rs1002726737
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)	rs549450795
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)	rs1767310072
NM_017739.4(POMGNT1):c.1027-2_1027-1del	rs1057516536
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)	rs1057516903
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	rs1599939853
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	rs1555738753
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.822del (p.Arg275fs)	rs2102883169

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