List of variants reported as likely pathogenic for Intellectual developmental disorder and retinitis pigmentosa; IDDRP by New Leaf Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)	rs1239725461	0.00001
NM_020843.4(SCAPER):c.1116del (p.Val373fs)	rs1598632432
NM_020843.4(SCAPER):c.1495+1G>A	rs1598598205
NM_020843.4(SCAPER):c.2166-3C>G	rs1598279469
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)	rs978336151
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs)	rs1462082548
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)	rs1596596355
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)	rs1303625185
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter)	rs1484749107

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