ClinVar Miner

List of variants in gene NRL studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001354768.3(NRL):c.*221G>A rs3561 0.50091
NM_001354768.3(NRL):c.*834G>C rs1051718 0.02209
NM_001354768.3(NRL):c.*1118G>A rs77284446 0.01707
NM_001354768.3(NRL):c.*558C>T rs114327952 0.00737
NM_001354768.3(NRL):c.*113C>A rs3560 0.00582
NM_001354768.3(NRL):c.441G>A (p.Arg147=) rs201197984 0.00421
NM_001354768.3(NRL):c.375C>G (p.His125Gln) rs201970559 0.00096
NM_001354768.3(NRL):c.*1127T>C rs113119768 0.00095
NM_001354768.3(NRL):c.399C>T (p.Ser133=) rs199590171 0.00082
NM_001354768.3(NRL):c.*213C>A rs79489503 0.00054
NM_001354768.3(NRL):c.*667C>T rs555110362 0.00028
NM_001354768.3(NRL):c.*864G>A rs906154950 0.00024
NM_001354768.3(NRL):c.-25G>C rs771610707 0.00019
NM_001354768.3(NRL):c.*778C>T rs762694845 0.00014
NM_001354768.3(NRL):c.186C>T (p.Thr62=) rs140765019 0.00014
NM_001354768.3(NRL):c.227C>T (p.Ala76Val) rs149921817 0.00012
NM_001354768.3(NRL):c.*173A>T rs540751400 0.00011
NM_001354768.3(NRL):c.407C>T (p.Ala136Val) rs375075312 0.00008
NM_001354768.3(NRL):c.*301A>T rs1019002721 0.00007
NM_001354768.3(NRL):c.*108C>T rs552709917 0.00006
NM_001354768.3(NRL):c.*935C>T rs184235122 0.00004
NM_001354768.3(NRL):c.23del (p.Leu8fs) rs527236087 0.00003
NM_001354768.3(NRL):c.425T>C (p.Val142Ala) rs576841649 0.00003
NM_001354768.3(NRL):c.-27-2A>G rs771932471 0.00001
NM_001354768.3(NRL):c.16del (p.Ser6fs) rs759747780 0.00001
NM_001354768.3(NRL):c.223dup (p.Leu75fs) rs763191889 0.00001
NM_001354768.3(NRL):c.73C>T (p.Arg25Trp) rs2036358473 0.00001
NM_001354768.3(NRL):c.91C>T (p.Arg31Ter) rs762991211 0.00001
NM_001354768.3(NRL):c.*1043G>A rs767236932
NM_001354768.3(NRL):c.*472C>T rs555330815
NM_001354768.3(NRL):c.*480A>G rs886050427
NM_001354768.3(NRL):c.*673C>A rs2036249329
NM_001354768.3(NRL):c.*780G>C rs886050426
NM_001354768.3(NRL):c.*813G>A rs560755924
NM_001354768.3(NRL):c.-27-1663C>T rs2036417721
NM_001354768.3(NRL):c.104dup (p.Thr36fs) rs1566561006
NM_001354768.3(NRL):c.148T>A (p.Ser50Thr) rs104894459
NM_001354768.3(NRL):c.148T>C (p.Ser50Pro)
NM_001354768.3(NRL):c.149C>T (p.Ser50Leu) rs2036353932
NM_001354768.3(NRL):c.151C>T (p.Pro51Ser) rs794727281
NM_001354768.3(NRL):c.152C>A (p.Pro51His) rs2036353653
NM_001354768.3(NRL):c.152C>T (p.Pro51Leu) rs2036353653
NM_001354768.3(NRL):c.227C>G (p.Ala76Gly) rs149921817
NM_001354768.3(NRL):c.238C>T (p.Gln80Ter) rs2138875137
NM_001354768.3(NRL):c.287T>C (p.Met96Thr) rs397514516
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_001354768.3(NRL):c.36T>C (p.Tyr12=)
NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)
NM_001354768.3(NRL):c.377T>G (p.Val126Gly) rs535235550
NM_001354768.3(NRL):c.382-7T>A
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs) rs1594246708
NM_001354768.3(NRL):c.452_459dup (p.Arg154fs)
NM_001354768.3(NRL):c.60G>A (p.Lys20=)
NM_001354768.3(NRL):c.74G>A (p.Arg25Gln)

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