List of variants in gene combination KCNA1, LOC130007218 reported as uncertain significance for hereditary continuous muscle fiber activity

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser)	rs777276806	0.00002
NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys)	rs529968149	0.00001
NM_000217.3(KCNA1):c.-27C>T	rs886049508
NM_000217.3(KCNA1):c.14C>T (p.Ser5Phe)	rs1947350227
NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)	rs754549386
NM_000217.3(KCNA1):c.17G>C (p.Gly6Ala)
NM_000217.3(KCNA1):c.1A>T (p.Met1Leu)	rs776861490
NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys)	rs1477627699
NM_000217.3(KCNA1):c.25G>A (p.Val9Met)
NM_000217.3(KCNA1):c.2T>C (p.Met1Thr)	rs1947350138
NM_000217.3(KCNA1):c.2T>G (p.Met1Arg)	rs1947350138
NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu)	rs1471834737
NM_000217.3(KCNA1):c.31G>T (p.Glu11Ter)
NM_000217.3(KCNA1):c.34G>C (p.Ala12Pro)
NM_000217.3(KCNA1):c.35C>T (p.Ala12Val)	rs2137672654
NM_000217.3(KCNA1):c.38C>A (p.Ser13Ter)	rs1253210703
NM_000217.3(KCNA1):c.40G>T (p.Ala14Ser)
NM_000217.3(KCNA1):c.43G>A (p.Ala15Thr)
NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)
NM_000217.3(KCNA1):c.48G>C (p.Pro16=)
NM_000217.3(KCNA1):c.4A>T (p.Thr2Ser)
NM_000217.3(KCNA1):c.5C>A (p.Thr2Lys)

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