List of variants studied for developmental defect during embryogenesis by Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	rs118204448	0.00003
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	rs763299645	0.00002
NM_000199.5(SGSH):c.258T>C (p.Asn86=)	rs1425717342	0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	rs1046551417	0.00001
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)
NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys)
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)	rs199422229
NM_000202.8(IDS):c.623T>A (p.Leu208Ter)
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	rs755832705
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	rs752937387
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.423-1G>A	rs2143002474
NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)
NM_012250.6(RRAS2):c.439C>T (p.Arg147Trp)
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu)	rs2141861695
NM_139125.4(MASP1):c.73A>T (p.Asn25Tyr)

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