List of variants in gene combination GPHN, RDH12 reported as likely pathogenic by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)	rs765914942	0.00004
NM_152443.3(RDH12):c.210dup (p.Arg71fs)	rs797044761	0.00001
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	rs761167763
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)	rs2038196341
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	rs794729650

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