List of variants in gene KIF21A reported as pathogenic for congenital fibrosis of extraocular muscles

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)	rs121912588
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)	rs121912589
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)	rs121912590
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)	rs267607200
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)	rs121912585
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)	rs121912586
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)	rs121912587

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