List of variants in gene combination GPHN, RDH12 reported as uncertain significance for Leber congenital amaurosis

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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: 29

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg)	rs115455005	0.00054
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn)	rs148334092	0.00037
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln)	rs150812168	0.00017
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys)	rs148629905	0.00017
NM_152443.3(RDH12):c.300C>T (p.Ser100=)	rs746513362	0.00012
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn)	rs371107041	0.00011
NM_152443.3(RDH12):c.313A>G (p.Ile105Val)	rs371493398	0.00005
NM_152443.3(RDH12):c.590G>T (p.Gly197Val)	rs867284235	0.00005
NM_152443.3(RDH12):c.187+3A>G	rs568731074	0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)	rs765914942	0.00004
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly)	rs779597637	0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp)	rs374403088	0.00002
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys)	rs146653515	0.00002
NM_152443.3(RDH12):c.165G>A (p.Thr55=)	rs751674066	0.00001
NM_152443.3(RDH12):c.277C>T (p.Leu93=)	rs143278615	0.00001
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)	rs374675592	0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile)	rs1206574200	0.00001
NM_152443.3(RDH12):c.465C>T (p.Thr155=)	rs749242059	0.00001
NM_152443.3(RDH12):c.525G>A (p.Ser175=)	rs756315539	0.00001
NM_152443.3(RDH12):c.578G>A (p.Arg193His)	rs567973980	0.00001
NM_152443.3(RDH12):c.658+7C>T	rs762391730	0.00001
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)	rs778481181
NM_152443.3(RDH12):c.187+5G>A	rs2038164046
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del)	rs754556714
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.540T>G (p.Ile180Met)	rs778933833
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr)	rs1374822427
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly)	rs146653515
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro)	rs998898101

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