List of variants in gene CACNA1C reported as uncertain significance 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000719.7(CACNA1C):c.5444+599C>A	rs551355331	0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)	rs752000790	0.00014
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)	rs370432385	0.00011
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)	rs745997744	0.00006
NM_000719.7(CACNA1C):c.4727-61G>A	rs761831470	0.00004
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)	rs373503739	0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)	rs886049209	0.00003
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)	rs368700869	0.00002
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly)	rs761430418	0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)	rs1391136601	0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)	rs375846068	0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)	rs786205742	0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val)	rs1216146146	0.00001
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)	rs750459136	0.00001
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg)	rs80315385
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys)
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile)	rs2060548431
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)	rs560163331
NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile)	rs2076328331
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser)	rs1131691881
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu)	rs2153803252
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn)	rs1556123007
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp)	rs1603473411

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