ClinVar Miner

List of variants in gene CACNA1B reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_000718.4(CACNA1B):c.1953C>T (p.Ala651=) rs79042424 0.00371
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) rs77664166 0.00301
NM_000718.4(CACNA1B):c.967-8G>A rs78177919 0.00263
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) rs150165282 0.00217
NM_000718.4(CACNA1B):c.6261G>A (p.Pro2087=) rs200950787 0.00151
NM_000718.4(CACNA1B):c.6432C>T (p.Ser2144=) rs201409760 0.00109
NM_000718.4(CACNA1B):c.6144G>A (p.Ser2048=) rs187721569 0.00100
NM_000718.4(CACNA1B):c.5031C>T (p.Thr1677=) rs200959091 0.00086
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr) rs200122209 0.00039
NM_000718.4(CACNA1B):c.6031-6C>T rs201506051 0.00039
NM_000718.4(CACNA1B):c.1551A>G (p.Ala517=) rs199718663 0.00026
NM_000718.4(CACNA1B):c.2718C>G (p.Arg906=) rs896144053 0.00026
NM_000718.4(CACNA1B):c.6738G>C (p.Gln2246His) rs200222038 0.00024
NM_000718.4(CACNA1B):c.3441G>T (p.Val1147=) rs201992929 0.00021
NM_000718.4(CACNA1B):c.6033C>T (p.Pro2011=) rs199504518 0.00016
NM_000718.4(CACNA1B):c.4044C>T (p.Tyr1348=) rs200235820 0.00014
NM_000718.4(CACNA1B):c.831C>T (p.Cys277=) rs778540767 0.00006
NM_000718.4(CACNA1B):c.2544G>A (p.Pro848=) rs200029127 0.00004
NM_000718.4(CACNA1B):c.3495C>T (p.Ile1165=) rs200895076 0.00001
NM_000718.4(CACNA1B):c.5118G>A (p.Val1706=) rs201951593 0.00001
NM_000718.4(CACNA1B):c.6615G>A (p.Thr2205=) rs768086614 0.00001
GRCh37/hg19 9q34.3(chr9:140862504-140994780)x3
NM_000718.4(CACNA1B):c.1017C>T (p.Leu339=)
NM_000718.4(CACNA1B):c.1044C>T (p.Leu348=)
NM_000718.4(CACNA1B):c.1059C>T (p.Gly353=)
NM_000718.4(CACNA1B):c.1187-8C>T rs181095015
NM_000718.4(CACNA1B):c.1374A>G (p.Thr458=)
NM_000718.4(CACNA1B):c.1746G>A (p.Leu582=)
NM_000718.4(CACNA1B):c.2055G>A (p.Ser685=) rs201000167
NM_000718.4(CACNA1B):c.2085C>T (p.Phe695=)
NM_000718.4(CACNA1B):c.2121C>T (p.Ile707=)
NM_000718.4(CACNA1B):c.2142C>T (p.Asn714=)
NM_000718.4(CACNA1B):c.2631G>A (p.Gly877=)
NM_000718.4(CACNA1B):c.2637C>G (p.Pro879=)
NM_000718.4(CACNA1B):c.2640T>G (p.Gly880=)
NM_000718.4(CACNA1B):c.3438C>T (p.Ile1146=)
NM_000718.4(CACNA1B):c.3852C>T (p.Asn1284=)
NM_000718.4(CACNA1B):c.3891C>T (p.Ala1297=)
NM_000718.4(CACNA1B):c.4212C>T (p.Pro1404=) rs74849357
NM_000718.4(CACNA1B):c.4335C>T (p.Ser1445=)
NM_000718.4(CACNA1B):c.4527G>A (p.Val1509=)
NM_000718.4(CACNA1B):c.4839C>T (p.Tyr1613=)
NM_000718.4(CACNA1B):c.5161C>T (p.Leu1721=)
NM_000718.4(CACNA1B):c.5208C>T (p.Tyr1736=)
NM_000718.4(CACNA1B):c.5352C>T (p.Asn1784=)
NM_000718.4(CACNA1B):c.5454C>T (p.Asp1818=)
NM_000718.4(CACNA1B):c.5461T>C (p.Leu1821=)
NM_000718.4(CACNA1B):c.6122G>A (p.Arg2041His)
NM_000718.4(CACNA1B):c.6273G>A (p.Pro2091=)
NM_000718.4(CACNA1B):c.6417G>A (p.Pro2139=)
NM_000718.4(CACNA1B):c.6438C>T (p.Ser2146=)
NM_000718.4(CACNA1B):c.6889G>A (p.Val2297Met) rs41290003
NM_000718.4(CACNA1B):c.786C>T (p.Pro262=)
NM_000718.4(CACNA1B):c.807C>T (p.Gly269=)
NM_000718.4(CACNA1B):c.966T>C (p.Asn322=)
NM_000718.4(CACNA1B):c.972C>T (p.Asn324=)

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