List of variants in gene KCNB1 reported as pathogenic by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe)	rs1569017205
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)	rs1569017174
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile)	rs1569017160
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn)	rs1569017148
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu)	rs1569017143
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)	rs1569017123
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)	rs1060499592
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)	rs1569017045
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)	rs1569017015
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)	rs781663444
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg)	rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.857del (p.Val286fs)	rs1569017337
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	rs1555889127
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter)	rs1179351306

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