ClinVar Miner

List of variants reported as likely pathogenic for congenital diaphragmatic hernia by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) rs1027079885
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) rs1565295550
NM_001127392.3(MYRF):c.1904-1G>A rs2066445430
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) rs2066476390
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.239dup (p.Gly81fs) rs2066051319

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