List of variants in gene GPHN, RDH12 studied for Retinitis Pigmentosa, Recessive

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)	rs17852293	0.12044
NM_152443.3(RDH12):c.-275+12C>T	rs73276636	0.03015
NM_152443.3(RDH12):c.-152A>G	rs76635633	0.00699
NM_152443.3(RDH12):c.570C>T (p.Ser190=)	rs79869437	0.00041
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln)	rs150812168	0.00017
NM_152443.3(RDH12):c.-123C>T	rs960563752	0.00009
NM_152443.3(RDH12):c.138C>T (p.Gly46=)	rs140371232	0.00004
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)	rs745471670	0.00003
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)	rs552516182	0.00001
NM_152443.3(RDH12):c.-121G>A	rs886050641
NM_152443.3(RDH12):c.-248C>G	rs886050640
NM_152443.3(RDH12):c.-253G>A	rs886050639

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