List of variants in gene CACNA1A reported as likely 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: 24

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter)
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn)	rs1600292598
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs)	rs1568518113
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)	rs1600273534
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)	rs1600271575
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)	rs746790849
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)	rs2056193902
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)	rs1568446845
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro)	rs1568443280
NM_001127222.2(CACNA1A):c.5400+2T>C	rs1057519197
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	rs1555736565
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs)	rs1600127096
NM_001127222.2(CACNA1A):c.5529-1171G>A	rs1555736262
NM_001127222.2(CACNA1A):c.5529-1215C>G
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter)	rs746848153
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)	rs1057522420
NM_001127222.2(CACNA1A):c.736G>A (p.Glu246Lys)
NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg)	rs1568569290
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)	rs863224852

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