ClinVar Miner

List of variants in gene PRPH2 studied for not specified

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Total variants: 18
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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.1013A>G (p.Asp338Gly) rs434102 0.77333
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59432
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.55830
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00033
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser) rs781256236 0.00002
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.464C>G (p.Thr155Ser) rs199572514
NM_000322.5(PRPH2):c.582-58A>C rs3818087
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432

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