List of variants in gene MVK reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.238G>A (p.Val80Ile)	rs76914224	0.00259
NM_000431.4(MVK):c.924C>T (p.Leu308=)	rs72648042	0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=)	rs138342076	0.00059
NM_000431.4(MVK):c.975C>T (p.Arg325=)	rs748947620	0.00011
NM_000431.4(MVK):c.591C>T (p.His197=)	rs104895329	0.00009
NM_000431.4(MVK):c.349C>T (p.Leu117=)	rs374204972	0.00004
NM_000431.4(MVK):c.78+7_78+10del	rs771523264	0.00004
NM_000431.4(MVK):c.927C>T (p.Gly309=)	rs762580578	0.00002
NM_000431.4(MVK):c.18A>G (p.Leu6=)	rs1474470230	0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=)	rs758432894	0.00001
NM_000431.4(MVK):c.1074G>A (p.Gln358=)	rs1566153756
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.774A>C (p.Pro258=)

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