ClinVar Miner

List of variants in gene RP2 reported as pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.102+1G>A
NM_006915.3(RP2):c.102+1G>T rs1602342663
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.137_147del (p.Lys46fs)
NM_006915.3(RP2):c.158del (p.Leu53fs) rs1602347637
NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer) rs1924897691
NM_006915.3(RP2):c.299dup (p.Phe101fs) rs1924900389
NM_006915.3(RP2):c.333_334del (p.Leu112fs) rs2147081300
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.353G>T (p.Arg118Leu) rs28933687
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.364del (p.Cys122fs) rs1602347786
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.367_421dup (p.Ser141Ter)
NM_006915.3(RP2):c.385_386del (p.Leu129fs) rs2147081333
NM_006915.3(RP2):c.392del (p.Cys131fs) rs1064797368
NM_006915.3(RP2):c.400C>T (p.Gln134Ter) rs1924904407
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_006915.3(RP2):c.445C>T (p.Gln149Ter)
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) rs1924906177
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) rs104894926
NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4) rs2147081376
NM_006915.3(RP2):c.465_468dup (p.Phe157fs) rs2147081378
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_006915.3(RP2):c.512G>A (p.Trp171Ter)
NM_006915.3(RP2):c.529_533del (p.Phe177fs) rs1924907742
NM_006915.3(RP2):c.530_531del (p.Phe177fs) rs1602347851
NM_006915.3(RP2):c.735C>G (p.Tyr245Ter)
NM_006915.3(RP2):c.768+1G>A rs1924915809
NM_006915.3(RP2):c.769-1G>A
NM_006915.3(RP2):c.76C>T (p.Gln26Ter) rs104894925
NM_006915.3(RP2):c.838del (p.Val280fs) rs2147083250
NM_006915.3(RP2):c.883+1del
NM_006915.3(RP2):c.884-1G>A rs1925389524
NM_006915.3(RP2):c.884-1G>C
NM_006915.3(RP2):c.891del (p.Ile298fs)
NM_006915.3(RP2):c.932del (p.Cys311fs) rs1602355025
NM_006915.3(RP2):c.93del (p.Gln31fs)
NM_006915.3(RP2):c.968delinsTCC (p.Lys323fs)
NM_006915.3(RP2):c.969+1dup rs1925391988
NM_006915.3:c.(102+1_103-1)_(883+1_884-1)del

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