List of variants in gene MVK reported as pathogenic by OMIM

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00018
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	rs104895382	0.00007
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	rs104895317	0.00006
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	rs104895300	0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro)	rs104895295	0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs)	rs104895322	0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met)	rs104895319	0.00001
NM_000431.4(MVK):c.1039+1G>A	rs104895362
NM_000431.4(MVK):c.1039+2T>C	rs398122910
NM_000431.4(MVK):c.1094T>C (p.Phe365Ser)	rs398122911
NM_000431.4(MVK):c.122T>C (p.Leu41Pro)	rs397514571
NM_000431.4(MVK):c.16_34del (p.Leu6fs)	rs104895334
NM_000431.4(MVK):c.417dup (p.Gly140fs)	rs104895373
NM_000431.4(MVK):c.421dup (p.Ala141fs)	rs104895323
NM_000431.4(MVK):c.494C>T (p.Pro165Leu)	rs121917790
NM_000431.4(MVK):c.764T>C (p.Leu255Pro)	rs397514570
NM_000431.4(MVK):c.902A>C (p.Asn301Thr)	rs121917789
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)	rs104895308

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