List of variants reported as pathogenic for developmental defect during embryogenesis by All of Us Research Program, National Institutes of Health

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00001
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)	rs375737772
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	rs121912923
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	rs112371422
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)	rs2153503975
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)	rs1928135337
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	rs104894834
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	rs797044702
NM_000169.3(GLA):c.870G>A (p.Met290Ile)	rs869312438
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)	rs786204864
NM_000314.8(PTEN):c.548dup (p.Asn184fs)	rs1554900593
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219

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