List of variants in gene PRPH2 reported by Mendelics

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	rs425876	0.92861
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	rs390659	0.78498
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)	rs61755770	0.00414
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)	rs1203908646
NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)	rs121918565
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)	rs61755796
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	rs121918567
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	rs61755801
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)	rs1582764697
NM_000322.5(PRPH2):c.829-4C>G	rs1582759785
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)	rs61748432

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