ClinVar Miner

List of variants studied for Retinitis pigmentosa 47

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	rs201153410	0.00020
NM_000541.5(SAG):c.944+5G>A	rs374048703	0.00007
NM_000541.5(SAG):c.733G>A (p.Val245Met)
NM_000541.5(SAG):c.916G>T (p.Glu306Ter)	rs397514682
NM_000541.5(SAG):c.926del (p.Asn309fs)	rs587776778

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