ClinVar Miner

List of variants studied for Persistent hyperplastic primary vitreous, autosomal recessive by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000010.11:g.68247368_68253890del
NM_145178.4(ATOH7):c.136A>C (p.Asn46His)	rs587777666
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)	rs587777664
NM_145178.4(ATOH7):c.53del (p.Pro18fs)	rs587777665

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