List of variants in gene AIPL1 reported as uncertain significance for autosomal recessive disease

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014336.4(AIPL1):c.-52G>T	rs377376064	0.00048
NM_014336.5(AIPL1):c.*153del	rs886053264	0.00013
NM_014336.4(AIPL1):c.-73A>G	rs751249166	0.00008
NM_014336.4(AIPL1):c.-21A>G	rs373772674	0.00002
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln)	rs751881283	0.00001
NM_014336.5(AIPL1):c.*1398G>A	rs886053259
NM_014336.5(AIPL1):c.150_151insCAA	rs200523461
NM_014336.5(AIPL1):c.151_152dup	rs77115868
NM_014336.5(AIPL1):c.153_154del	rs886053263
NM_014336.5(AIPL1):c.153_155del	rs886053262
NM_014336.5(AIPL1):c.*730dup	rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2]	rs375369909
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)	rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del)	rs1200311161

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