ClinVar Miner

List of variants reported as likely pathogenic for lung disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (132):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) rs371035540 0.00001
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) rs1969550671

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