ClinVar Miner

List of variants in gene PRPH2 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.133del (p.Leu45fs)
NM_000322.5(PRPH2):c.195del (p.Ile65fs)
NM_000322.5(PRPH2):c.213del (p.Cys72fs)
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) rs1761915143
NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter) rs2152011008
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.359_362del (p.Phe120fs)
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter) rs2152010946
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.514del (p.Arg172fs)
NM_000322.5(PRPH2):c.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter) rs2152010848
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.582-2A>T rs2152005417
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) rs1322278463
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter) rs2152011135
NM_000322.5(PRPH2):c.645del (p.Pro216fs)
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr) rs1458793437
NM_000322.5(PRPH2):c.74_77del (p.Trp25fs) rs2152011125
NM_000322.5(PRPH2):c.760del (p.Leu254fs) rs1800111025
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.898G>T (p.Glu300Ter)
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5:c.(581+1_582-1)_(828+1_829-1)del

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