List of variants in gene CACNB4 reported as uncertain significance by GeneDx

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_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)	rs762394421	0.00013
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)	rs776608168	0.00009
NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)	rs370263335	0.00003
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)	rs760115429	0.00001
NM_000726.5(CACNB4):c.208C>T (p.Arg70Trp)	rs765848806	0.00001
NM_000726.5(CACNB4):c.209G>A (p.Arg70Gln)	rs772769233	0.00001
NM_000726.5(CACNB4):c.313G>A (p.Gly105Ser)	rs563023146	0.00001
NM_000726.5(CACNB4):c.839T>C (p.Ile280Thr)	rs765961368	0.00001
NM_000726.5(CACNB4):c.1280C>A (p.Pro427His)	rs796052290
NM_000726.5(CACNB4):c.1343C>G (p.Ser448Cys)	rs796052292
NM_000726.5(CACNB4):c.1348A>G (p.Ile450Val)	rs773625599
NM_000726.5(CACNB4):c.371A>G (p.Asp124Gly)	rs796052286
NM_000726.5(CACNB4):c.517G>A (p.Gly173Arg)	rs796052287
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del)	rs1057518634
NM_000726.5(CACNB4):c.656T>C (p.Met219Thr)	rs796052288
NM_000726.5(CACNB4):c.937G>A (p.Ala313Thr)	rs2151358481

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