ClinVar Miner

List of variants reported for ANO5-related disorder by GenomeConnect - Invitae Patient Insights Network

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=)	rs4312063	0.83210
GRCh37/hg19 11p14.3(chr11:22239792-22242756)x1
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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