ClinVar Miner

Variants in gene LRPPRC with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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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.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.149+20C>G rs540850536 0.00451
NM_133259.4(LRPPRC):c.470-20A>G rs201123932 0.00208
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685 0.00118
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.651-15G>A rs375831894 0.00032
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510 0.00016
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276 0.00016
NM_133259.4(LRPPRC):c.3825+15C>T rs374967275 0.00015
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.1966-12del rs763457460
NM_133259.4(LRPPRC):c.2629+18A>G rs572783698
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.864+11T>G rs193090896

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