ClinVar Miner

List of variants in gene LRPPRC reported as benign for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_133259.4(LRPPRC):c.*1665C>T rs1139250 0.63748
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_133259.4(LRPPRC):c.*556A>T rs1136998 0.07663
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.*2176A>T rs73924082 0.01948
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133259.4(LRPPRC):c.*825A>G rs17031753 0.01776
NM_133259.4(LRPPRC):c.*1088G>C rs79225555 0.01767
NM_133259.4(LRPPRC):c.*1371C>T rs111381413 0.01377
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_133259.4(LRPPRC):c.*1343G>C rs75002669 0.00947
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.*734A>G rs114517881 0.00810
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_133259.4(LRPPRC):c.*1335T>C rs76970610 0.00348
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481

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