ClinVar Miner

List of variants in gene CACNB4 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His) rs368111233 0.00005
NM_000726.5(CACNB4):c.148-90306C>T rs547439915 0.00005
NM_000726.5(CACNB4):c.521+5G>A rs768612563 0.00004
NM_000726.5(CACNB4):c.521+4C>T rs1416772263 0.00002
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser) rs746415223 0.00002
NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys) rs755031838 0.00001
NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp) rs768385119 0.00001
NM_000726.5(CACNB4):c.1504C>G (p.Pro502Ala) rs777642049 0.00001
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln) rs760115429 0.00001
NM_000726.5(CACNB4):c.280G>A (p.Ala94Thr) rs1345049325 0.00001
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_000726.5(CACNB4):c.857G>A (p.Arg286Gln) rs760703958 0.00001
NM_000726.5(CACNB4):c.1021-14TCT[2]
NM_000726.5(CACNB4):c.1030C>T (p.Arg344Trp)
NM_000726.5(CACNB4):c.138C>T (p.Ile46=)
NM_000726.5(CACNB4):c.1460T>C (p.Leu487Pro) rs775008250
NM_000726.5(CACNB4):c.148-90290T>G
NM_000726.5(CACNB4):c.148-90331T>G rs2099873223
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe) rs1367982719
NM_000726.5(CACNB4):c.391-1G>A
NM_000726.5(CACNB4):c.468A>C (p.Arg156Ser)
NM_000726.5(CACNB4):c.619-9C>T rs2151408626
NM_000726.5(CACNB4):c.64-244_64-241del rs1579294876
NM_000726.5(CACNB4):c.969A>G (p.Ile323Met)

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