List of variants in gene combination GPHN, RDH12 reported as pathogenic by OMIM

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	rs104894471	0.00007
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	rs28940314	0.00003
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp)	rs104894475	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	rs104894473
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.523T>C (p.Ser175Pro)	rs104894472
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)	rs104894470
NM_152443.3(RDH12):c.658+1G>A	rs387906272

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