List of variants in gene IQCB1 studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	rs387907009	0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)	rs748559081	0.00001
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)	rs1948821736
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)	rs1553722736
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	rs750962965

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