List of variants in gene CACNA1A reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical Center

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)	rs199512932	0.00024
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)	rs751726770	0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)	rs373224251	0.00004
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)	rs760816963	0.00001
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser)	rs1982996175
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile)	rs2057841232
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)	rs750826355
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)	rs2057333004
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)	rs2056767982
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)	rs2144758462
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)	rs2055823924
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)	rs1057521547
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)	rs1568424111
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)	rs2144501233
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)	rs1599292506
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)	rs1235870142

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