ClinVar Miner

List of variants in gene combination HBA-LCR, NPRL3 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1351+75T>C rs2239299 0.98102
NM_001077350.3(NPRL3):c.548-64A>G rs808892 0.87694
NM_001077350.3(NPRL3):c.1032-102A>G rs2541618 0.84201
NM_001077350.3(NPRL3):c.768-53C>T rs2541616 0.82761
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=) rs1128426 0.02170
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His) rs73478320 0.01540
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=) rs75187722 0.01456
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849 0.01129
NM_001077350.3(NPRL3):c.1544+18C>T rs147148279 0.00424
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=) rs140092767 0.00419
NM_001077350.3(NPRL3):c.629+9G>C rs142080016 0.00290
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989 0.00156
NM_001077350.3(NPRL3):c.1351+19C>T rs372572343 0.00146
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp) rs201957188 0.00141
NM_001077350.3(NPRL3):c.189-15C>G rs183021938 0.00061
NM_001077350.3(NPRL3):c.1351+7C>T rs376215928 0.00027
NM_001077350.3(NPRL3):c.767+19G>A rs112754051 0.00020
NM_001077350.3(NPRL3):c.318+8T>G rs370788298 0.00010
NM_001077350.3(NPRL3):c.768-15G>A rs189005933 0.00008
NM_001077350.3(NPRL3):c.629+16G>C rs148320642 0.00005
NM_001077350.3(NPRL3):c.1302C>T (p.Val434=) rs570086678 0.00004
NM_001077350.3(NPRL3):c.924+7C>G rs778499898 0.00004
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=) rs549291288 0.00003
NM_001077350.3(NPRL3):c.1268C>A (p.Pro423Gln) rs200792895
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu) rs74712570
NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)
NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs) rs57321480
NM_001077350.3(NPRL3):c.768-10T>G rs566886246

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