ClinVar Miner

List of variants in gene PRPH2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.252C>T (p.Asp84=) rs139936445 0.00017
NM_000322.5(PRPH2):c.21G>T (p.Lys7Asn) rs1582781191 0.00001
GRCh37/hg19 6p21.1(chr6:42672103-42672349)x1
NM_000322.5(PRPH2):c.205del (p.Val69fs) rs1761916286
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.387C>T (p.Thr129=) rs1582780697
NM_000322.5(PRPH2):c.401T>C (p.Leu134Pro) rs1761910745
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs) rs1554270806
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.582-1G>C rs1800118693
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.617T>C (p.Val206Ala) rs1064797323
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.709G>A (p.Asp237Asn)
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.770A>G (p.Tyr257Cys)
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.930G>C (p.Arg310Ser)
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521

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