List of variants in gene CPLANE1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)	rs530569572	0.00006
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	rs749523755	0.00001
GRCh37/hg19 5p13.2(chr5:37142412-37148370)x1
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.2045C>G (p.Ser682Ter)	rs1796506869
NM_001384732.1(CPLANE1):c.2291+2T>C	rs1051234664
NM_001384732.1(CPLANE1):c.3030_3033del (p.Phe1010fs)	rs2150128983
NM_001384732.1(CPLANE1):c.3545del (p.Asn1182fs)	rs769153428
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)	rs775263897
NM_001384732.1(CPLANE1):c.9339dup (p.Ala3114fs)	rs1760511597
NM_001384732.1(CPLANE1):c.9376C>T (p.Gln3126Ter)	rs759580516

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