ClinVar Miner

List of variants in gene CACNB4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.64-238T>G rs369342902 0.00042
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.620C>T (p.Thr207Met) rs750116399 0.00006
NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro) rs536470851 0.00002
NM_000726.5(CACNB4):c.1504C>G (p.Pro502Ala) rs777642049 0.00001
NM_000726.5(CACNB4):c.1271C>T (p.Ser424Leu) rs2151319737
NM_000726.5(CACNB4):c.1504C>A (p.Pro502Thr) rs777642049
NM_000726.5(CACNB4):c.869C>T (p.Ala290Val)

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