ClinVar Miner

List of variants in gene combination CERKL, ITGA4 reported as uncertain significance for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.*1324G>A rs11553355 0.01741
NM_201548.5(CERKL):c.*1045G>A rs78381893 0.01727
NM_201548.5(CERKL):c.*1044C>T rs16867441 0.01678
NM_201548.5(CERKL):c.*295G>A rs148226735 0.01161
NM_201548.5(CERKL):c.*330C>T rs115260661 0.00998
NM_000885.6(ITGA4):c.*2381C>A rs72883650 0.00503
NM_201548.5(CERKL):c.*573A>G rs188892870 0.00302
NM_201548.5(CERKL):c.*1023G>A rs192210010 0.00201
NM_201548.5(CERKL):c.*567T>C rs10490690 0.00179
NM_201548.5(CERKL):c.*1207C>G rs189163426 0.00088
NM_201548.5(CERKL):c.*979C>T rs200370399 0.00052
NM_201548.5(CERKL):c.*1212A>G rs138526637 0.00051
NM_201548.5(CERKL):c.*160T>G rs185476460 0.00043
NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr) rs141723283 0.00014
NM_201548.5(CERKL):c.*114A>G rs766876969 0.00013
NM_201548.5(CERKL):c.*1371C>T rs984330083 0.00005
NM_201548.5(CERKL):c.*306C>T rs748428407 0.00004
NM_201548.5(CERKL):c.*743G>A rs201433997 0.00003
NM_201548.5(CERKL):c.1596G>A (p.Lys532=) rs752334385 0.00003
NM_201548.5(CERKL):c.1543C>T (p.His515Tyr) rs781416914 0.00002
NM_201548.5(CERKL):c.*1216G>A rs886055313 0.00001
NM_201548.5(CERKL):c.*452G>A rs201131211 0.00001
NM_201548.5(CERKL):c.*869C>T rs886055314 0.00001
NM_201548.5(CERKL):c.*92G>C rs886055317 0.00001
NM_201548.5(CERKL):c.1548A>C (p.Pro516=) rs1687294615 0.00001
NM_201548.5(CERKL):c.*1058T>G rs200646302
NM_201548.5(CERKL):c.*237G>A rs758328553
NM_201548.5(CERKL):c.*25G>T rs368851275
NM_201548.5(CERKL):c.*77G>T rs1574424314
NM_201548.5(CERKL):c.*780T>C rs886055315
NM_201548.5(CERKL):c.1539-5T>A rs371788033

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