List of variants in gene NRL studied for Retinitis pigmentosa

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 34

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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.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.*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.227C>G (p.Ala76Gly)	rs149921817
NM_001354768.3(NRL):c.238C>T (p.Gln80Ter)	rs2138875137
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs)	rs1594246708

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