ClinVar Miner

List of variants reported as risk factor for Congenital diaphragmatic hernia

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Total variants: 7
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HGVS dbSNP
NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly) rs780263938
NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala) rs756636036
NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys) rs372359356
NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val) rs921444831
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921
NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe) rs1555261576

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