List of variants in gene combination GPHN, RDH12 reported as likely pathogenic for Retinitis pigmentosa

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)	rs1163040913	0.00001
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)	rs2140141345
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr)	rs1594865719
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	rs104894474
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)	rs1594866237

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