List of variants in gene PGAP1 reported as benign 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.649+17G>A	rs12693800	0.89159
NM_024989.4(PGAP1):c.1862-3C>T	rs73988069	0.04584
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)	rs35444896	0.02335
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)	rs149815494	0.01375
NM_024989.4(PGAP1):c.860+12C>A	rs79169433	0.01104
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)	rs74459402	0.01097
NM_024989.4(PGAP1):c.1952+10A>C	rs7609297	0.00652
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)	rs62185645	0.00410
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)	rs138525017	0.00283
NM_024989.4(PGAP1):c.1351-16A>G	rs377329019	0.00148
NM_024989.4(PGAP1):c.649+11T>A	rs181229301	0.00131
NM_024989.4(PGAP1):c.1729-12G>A	rs75342998	0.00116
NM_024989.4(PGAP1):c.1220+19T>C	rs142559942	0.00043
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)	rs147312612	0.00041
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)	rs139927561	0.00034
NM_024989.4(PGAP1):c.2630+15T>C	rs375452864	0.00032
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)	rs138036688	0.00016
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=)	rs374678391	0.00013
NM_024989.4(PGAP1):c.2287-11A>G	rs369759909	0.00012
NM_024989.4(PGAP1):c.1273-17dup	rs3835877
NM_024989.4(PGAP1):c.1273-8del	rs3835877
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.861-14_861-11del	rs751306632
NM_024989.4(PGAP1):c.927+12dup	rs1162737906

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