List of variants in gene AIPL1 reported as likely pathogenic for AIPL1-related retinopathy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)	rs776024427	0.00003
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)	rs1264794214	0.00001
NM_014336.5(AIPL1):c.276+1G>A	rs150097891	0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014336.5(AIPL1):c.465+1G>A	rs887335730	0.00001
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)	rs748210823
NM_014336.5(AIPL1):c.294del (p.Ile99fs)	rs1597331616
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)	rs758001091
NM_014336.5(AIPL1):c.466-1G>C	rs1567637467
NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)	rs751881283
NM_014336.5(AIPL1):c.784+2T>A
NM_014336.5(AIPL1):c.809G>A (p.Arg270His)
NM_014336.5(AIPL1):c.814del (p.Arg272fs)	rs2150675032
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs)	rs2150674258
NM_014336.5(AIPL1):c.97-1G>A

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