List of variants reported as pathogenic for developmental defect during embryogenesis by Blueprint Genetics

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	rs104894841	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_002397.4:c.(?_-1)_(*1_?)del
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	rs397507501
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	rs397507539
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	rs397516830
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)	rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	rs397517154
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	rs137852813
Single allele

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