List of variants in gene combination CTPS1, LOC126805717 reported as likely benign for immune system disorder

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001905.4(CTPS1):c.1393+17G>A	rs370283423	0.00009
NM_001905.4(CTPS1):c.1297-7T>C	rs750945368	0.00004
NM_001905.4(CTPS1):c.1311A>G (p.Pro437=)	rs781599785	0.00002
NM_001905.4(CTPS1):c.1299C>T (p.Val433=)	rs76417011	0.00001
NM_001905.4(CTPS1):c.1335C>T (p.Gly445=)	rs887919128	0.00001
NM_001905.4(CTPS1):c.1297-9C>T
NM_001905.4(CTPS1):c.1302A>C (p.Val434=)	rs751676863
NM_001905.4(CTPS1):c.1393+12C>T
NM_001905.4(CTPS1):c.1393+16C>T
NM_001905.4(CTPS1):c.1393+9T>G

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