ClinVar Miner

List of variants in gene KCNB1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) rs199910304 0.00009
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 0.00004
NM_004975.4(KCNB1):c.568-5C>T rs185995580 0.00004
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
NM_004975.4(KCNB1):c.9G>A (p.Ala3=) rs768300586 0.00002
NM_004975.4(KCNB1):c.738G>A (p.Leu246=) rs1336511502 0.00001
NM_004975.4(KCNB1):c.1188C>G (p.Leu396=) rs867258406
NM_004975.4(KCNB1):c.2342G>A (p.Ser781Asn) rs1271782193
NM_004975.4(KCNB1):c.2400C>T (p.Ser800=)
NM_004975.4(KCNB1):c.489C>T (p.Phe163=) rs767078520
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) rs763166574

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