List of variants in gene CACNA1D reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)	rs35090700	0.00107
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser)	rs139380111	0.00037
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)	rs115066564	0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)	rs144474773	0.00036
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)	rs199874790	0.00035
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)	rs41276445	0.00034
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe)	rs200382504	0.00019
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)	rs200910800	0.00016
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys)	rs150652713	0.00013
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)	rs369626956	0.00012
NM_001128840.3(CACNA1D):c.3115-3C>T	rs779910083	0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)	rs759409255	0.00010
NM_001128840.3(CACNA1D):c.2254G>A (p.Val752Ile)	rs962492548	0.00005
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val)	rs748425556	0.00003
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile)	rs773365038	0.00003
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu)	rs770605004	0.00003
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met)	rs369605872	0.00002
NM_001128840.3(CACNA1D):c.3709A>G (p.Met1237Val)	rs767083533	0.00002
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln)	rs148898845	0.00002
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn)	rs41276455	0.00002
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr)	rs138150805	0.00001
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser)	rs1316050748	0.00001
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile)	rs748437057	0.00001
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys)	rs781171340	0.00001
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp)	rs373663753	0.00001
NM_001128840.3(CACNA1D):c.1508G>A (p.Arg503Gln)	rs941177114
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)	rs147933585
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)	rs147146258
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg)	rs766813584
NM_001128840.3(CACNA1D):c.5408+4del	rs1553687972
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr)	rs766889110
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu)	rs876657749
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser)	rs1415040812

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