List of variants in gene MVK reported as likely pathogenic for not provided

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)	rs104895321	0.00021
NM_000431.4(MVK):c.1139A>G (p.His380Arg)	rs104895324	0.00005
NM_000431.4(MVK):c.608T>C (p.Val203Ala)	rs104895332	0.00004
NM_000431.4(MVK):c.802A>G (p.Ile268Val)	rs759997079	0.00003
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	rs104895300	0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_000431.4(MVK):c.1039+1G>C
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg)	rs1555279757
NM_000431.4(MVK):c.249del (p.Thr84fs)
NM_000431.4(MVK):c.349_350del (p.Leu117fs)	rs1593015642
NM_000431.4(MVK):c.52G>A (p.Gly18Arg)
NM_000431.4(MVK):c.60T>A (p.His20Gln)	rs104895335
NM_000431.4(MVK):c.850del (p.Glu284fs)	rs1885671620
NM_000431.4(MVK):c.904C>T (p.Gln302Ter)	rs886048933
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)	rs104895305
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000431.4(MVK):c.943_944del (p.Leu315fs)	rs776735249

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