List of variants in gene KCNB1 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile)	rs372263564	0.00014
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu)	rs201212125	0.00010
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu)	rs777053418	0.00006
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln)	rs764648709	0.00004
NM_004975.4(KCNB1):c.568-5C>T	rs185995580	0.00004
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile)	rs896349825	0.00002
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu)	rs770677266	0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)	rs1447311755	0.00001
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)	rs587777848
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe)	rs1984252463
NM_004975.4(KCNB1):c.1256T>C (p.Phe419Ser)
NM_004975.4(KCNB1):c.1450T>C (p.Ser484Pro)
NM_004975.4(KCNB1):c.1661G>A (p.Ser554Asn)
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
NM_004975.4(KCNB1):c.1852G>A (p.Gly618Ser)
NM_004975.4(KCNB1):c.2035G>A (p.Gly679Ser)
NM_004975.4(KCNB1):c.2336C>T (p.Pro779Leu)
NM_004975.4(KCNB1):c.2450C>G (p.Thr817Arg)
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp)	rs144926751
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.937C>T (p.His313Tyr)	rs918313461
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)	rs1276378675
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys)	rs1555889114

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