List of variants in gene KCNB1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004975.4(KCNB1):c.1055_1066del (p.Ala352_Asp355del)	rs2146813853
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg)	rs886041743
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile)	rs587777849
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu)	rs1569017143
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)	rs1984249721
NM_004975.4(KCNB1):c.1144G>C (p.Asp382His)	rs1555889090
NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu)	rs1984242860
NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs)	rs1555889069
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs)	rs1555889157
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs)	rs886041617
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.937C>T (p.His313Tyr)	rs918313461
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)	rs1276378675

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