ClinVar Miner

List of variants reported as likely pathogenic for corneal disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) rs753928736 0.00005
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
NM_001174089.2(SLC4A11):c.671G>A (p.Trp224Ter) rs746532062
NM_015040.4(PIKFYVE):c.4142+1del

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