List of variants in gene combination GPHN, RDH12 reported as pathogenic for autosomal recessive disease

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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: 17

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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.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	rs761231974	0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	rs28940314	0.00003
NM_152443.3(RDH12):c.210dup (p.Arg71fs)	rs797044761	0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)	rs368489658	0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)	rs752242512	0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)	rs116649873	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)	rs753074829	0.00001
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	rs761167763
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	rs753959716
NM_152443.3(RDH12):c.68+1G>A	rs2140138146

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