List of variants in gene PRPH2 studied for Macular dystrophy

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.276dup (p.Arg93fs)	rs1582780842
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)	rs753657349
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	rs61755814
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs)	rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs)	rs1582764528
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	rs1582759492

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