List of variants in gene CCDC22 reported as uncertain significance for central nervous system malformation

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)	rs782691732	0.00005
NM_014008.5(CCDC22):c.1212+4G>T	rs782736581	0.00004
NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp)	rs1031657486	0.00003
NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)	rs782683625	0.00002
NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	rs199545573	0.00001
NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)	rs782726788	0.00001
NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val)
NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)	rs782333361
NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys)
NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)	rs782344227
NM_014008.5(CCDC22):c.1501G>A (p.Val501Met)
NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly)
NM_014008.5(CCDC22):c.1636-6G>C	rs2066012194
NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)	rs1557115091
NM_014008.5(CCDC22):c.1852G>C (p.Ala618Pro)
NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg)
NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp)	rs2066019694
NM_014008.5(CCDC22):c.1882T>C (p.Ter628Arg)	rs2147943314
NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)
NM_014008.5(CCDC22):c.284C>T (p.Pro95Leu)
NM_014008.5(CCDC22):c.2T>C (p.Met1Thr)	rs2147932882
NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)
NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp)
NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg)	rs2065972358
NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln)
NM_014008.5(CCDC22):c.552G>C (p.Gln184His)
NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_014008.5(CCDC22):c.909+122G>A
NM_014008.5(CCDC22):c.973G>T (p.Val325Phe)

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