List of variants in gene combination CACNA1A, LOC126862865 reported as likely benign for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3989+16A>G	rs149764550	0.01798
NM_001127222.2(CACNA1A):c.3883-18C>T	rs745383274	0.00009
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)	rs755279579	0.00009
NM_001127222.2(CACNA1A):c.3989+11T>C	rs762686149	0.00004
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)	rs372081879	0.00003
NM_001127222.2(CACNA1A):c.3883-20C>T	rs769443982	0.00002
NM_001127222.2(CACNA1A):c.3883-5C>T	rs748652953	0.00001
NM_001127222.2(CACNA1A):c.3883-12T>C
NM_001127222.2(CACNA1A):c.3883-13T>C	rs2057137391
NM_001127222.2(CACNA1A):c.3883-14C>T
NM_001127222.2(CACNA1A):c.3883-16C>T
NM_001127222.2(CACNA1A):c.3883-5C>A	rs748652953
NM_001127222.2(CACNA1A):c.3883-5C>G	rs748652953
NM_001127222.2(CACNA1A):c.3883-6C>T	rs1600224734
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=)	rs2144833248
NM_001127222.2(CACNA1A):c.3989+10C>T	rs1600224597
NM_001127222.2(CACNA1A):c.3989+13G>A	rs373480312
NM_001127222.2(CACNA1A):c.3989+19G>A
NM_001127222.2(CACNA1A):c.3989+9C>T

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