List of variants in gene KCNC1 reported as uncertain significance for Inborn genetic diseases

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg)	rs749270474	0.00005
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn)	rs927483438	0.00004
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His)	rs775885483	0.00002
NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn)	rs773455390	0.00001
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)	rs1057524670
NM_001112741.2(KCNC1):c.1741G>T (p.Ala581Ser)
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys)	rs1027286161
NM_001112741.2(KCNC1):c.584C>A (p.Ala195Asp)
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro)	rs200873319
NM_001112741.2(KCNC1):c.950G>A (p.Arg317His)	rs1554991338

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