List of variants in gene AP1B1 studied for Autosomal recessive keratitis-ichthyosis-deafness syndrome

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001127.4(AP1B1):c.204A>G (p.Leu68=)	rs2072051	0.63578
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)	rs1160266009	0.00001
NC_000022.10:g.29758984_29815476del
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)	rs2147978539
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)	rs1334834057
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)	rs1602683532
NM_001127.4(AP1B1):c.2349G>A (p.Ala783=)	rs174765
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)	rs780548317
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
NM_001127.4(AP1B1):c.2T>C (p.Met1Thr)	rs2148022135
NM_001127.4(AP1B1):c.38-1G>A	rs1602761438
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)	rs1602749299
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)	rs2147995205

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