List of variants reported as likely pathogenic for Retinitis pigmentosa 76

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001

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