List of variants in gene KCND3 reported as pathogenic for Spinocerebellar ataxia type 19/22

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)	rs1571939827
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)	rs797045634
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)	rs397515476
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)	rs1571636508
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	rs1571636501
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)	rs1664632655
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)	rs1057519453
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)	rs397515478
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	rs786205867
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)	rs397515475
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)	rs1571939905

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