List of variants in gene CLCN3 studied for neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001829.4(CLCN3):c.1238C>T (p.Ala413Val)	rs1190062987	0.00001
NM_001829.4(CLCN3):c.491C>T (p.Ala164Val)	rs755931467	0.00001
NM_001829.4(CLCN3):c.1100A>G (p.Asn367Ser)	rs2150255848
NM_001829.4(CLCN3):c.1109G>A (p.Gly370Asp)
NM_001829.4(CLCN3):c.1357A>C (p.Ser453Arg)	rs201059509
NM_001829.4(CLCN3):c.1516G>C (p.Ala506Pro)
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)	rs1732900321
NM_001829.4(CLCN3):c.171T>A (p.Tyr57Ter)
NM_001829.4(CLCN3):c.1739C>T (p.Ala580Val)
NM_001829.4(CLCN3):c.1819A>G (p.Ile607Val)
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)	rs2150267036
NM_001829.4(CLCN3):c.1949A>G (p.His650Arg)
NM_001829.4(CLCN3):c.1963G>T (p.Ala655Ser)
NM_001829.4(CLCN3):c.2084T>C (p.Ile695Thr)
NM_001829.4(CLCN3):c.2242C>T (p.Pro748Ser)
NM_001829.4(CLCN3):c.2315T>C (p.Val772Ala)	rs2150274994
NM_001829.4(CLCN3):c.2333T>G (p.Leu778Arg)
NM_001829.4(CLCN3):c.2368C>T (p.Arg790Cys)
NM_001829.4(CLCN3):c.254A>G (p.Tyr85Cys)	rs2150238934
NM_001829.4(CLCN3):c.336_339del (p.Lys112fs)	rs2150246636
NM_001829.4(CLCN3):c.466C>G (p.Leu156Val)	rs1581252557
NM_001829.4(CLCN3):c.508G>C (p.Glu170Gln)
NM_001829.4(CLCN3):c.50A>G (p.Asn17Ser)
NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)	rs1732397227
NM_001829.4(CLCN3):c.866C>A (p.Ala289Asp)
NM_001829.4(CLCN3):c.971T>C (p.Val324Ala)	rs2150254146

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