ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
NM_152443.3(RDH12):c.658+1G>A rs387906272

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