List of variants in gene RPGRIP1L reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)	rs766943204	0.00006
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)	rs1277577195	0.00004
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	rs121918204	0.00002
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)	rs776941281	0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)	rs990678342	0.00001
NM_015272.5(RPGRIP1L):c.1104-2A>G
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs)	rs760952407
NM_015272.5(RPGRIP1L):c.2027del (p.Asn676fs)	rs2151125463
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter)	rs1057520162
NM_015272.5(RPGRIP1L):c.403del (p.Ser135fs)	rs1598411105
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
NM_015272.5(RPGRIP1L):c.931del (p.Asp311fs)
NM_015272.5(RPGRIP1L):c.94dup (p.Thr32fs)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)	rs757594906

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