ClinVar Miner

List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as uncertain significance for Leber congenital amaurosis 13

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_152443.3(RDH12):c.844T>G (p.Phe282Val) rs756887056 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152443.3(RDH12):c.709C>G (p.Leu237Val) rs1377743038 0.00001
NM_152443.3(RDH12):c.745C>T (p.Arg249Trp) rs1452061026 0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) rs1318963464 0.00001
NM_152443.3(RDH12):c.794G>C (p.Ser265Thr) rs766633594 0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp) rs773048895 0.00001
NM_152443.3(RDH12):c.659-3C>T
NM_152443.3(RDH12):c.663C>A (p.Thr221=)
NM_152443.3(RDH12):c.664G>A (p.Gly222Arg)
NM_152443.3(RDH12):c.664G>T (p.Gly222Trp)
NM_152443.3(RDH12):c.691G>C (p.Gly231Arg) rs2038232614
NM_152443.3(RDH12):c.700C>T (p.Arg234Cys)
NM_152443.3(RDH12):c.712G>C (p.Val238Leu) rs1316624378
NM_152443.3(RDH12):c.733T>G (p.Cys245Gly)
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe) rs1185491186
NM_152443.3(RDH12):c.751T>C (p.Phe251Leu)
NM_152443.3(RDH12):c.755C>T (p.Ser252Phe)
NM_152443.3(RDH12):c.757C>A (p.Pro253Thr) rs943754830
NM_152443.3(RDH12):c.758C>A (p.Pro253His) rs770465995
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu) rs770465995
NM_152443.3(RDH12):c.764T>G (p.Val255Gly)
NM_152443.3(RDH12):c.766A>C (p.Lys256Gln)
NM_152443.3(RDH12):c.780G>T (p.Glu260Asp)
NM_152443.3(RDH12):c.782G>C (p.Gly261Ala) rs2140150922
NM_152443.3(RDH12):c.782G>T (p.Gly261Val)
NM_152443.3(RDH12):c.791C>T (p.Thr264Ile)
NM_152443.3(RDH12):c.800A>C (p.His267Pro) rs1424264350
NM_152443.3(RDH12):c.825G>C (p.Glu275Asp)
NM_152443.3(RDH12):c.847A>G (p.Ser283Gly)
NM_152443.3(RDH12):c.848+1GT[2]
NM_152443.3(RDH12):c.848+3G>A rs2038237483
NM_152443.3(RDH12):c.849-6C>G rs1203847598
NM_152443.3(RDH12):c.854G>A (p.Cys285Tyr) rs973306929
NM_152443.3(RDH12):c.863C>T (p.Thr288Ile)
NM_152443.3(RDH12):c.874C>T (p.Pro292Ser)
NM_152443.3(RDH12):c.891_893dup (p.Asn297dup) rs2140162568
NM_152443.3(RDH12):c.904C>T (p.Arg302Cys)
NM_152443.3(RDH12):c.905G>A (p.Arg302His)
NM_152443.3(RDH12):c.929T>G (p.Leu310Arg) rs991322422
NM_152443.3(RDH12):c.938T>C (p.Ile313Thr) rs1197223861
NM_152443.3(RDH12):c.946del (p.Glu316fs)

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