List of variants in gene MVK studied for perceptual disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.510C>T (p.Asp170=)	rs2287218	0.17165
NM_000431.4(MVK):c.831C>T (p.Arg277=)	rs104895353	0.01061
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000431.4(MVK):c.924C>T (p.Leu308=)	rs72648042	0.00140
NM_000431.4(MVK):c.1128C>T (p.Gly376=)	rs147662789	0.00023
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00018
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	rs104895317	0.00006
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)	rs104895342	0.00005
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)	rs104895298	0.00004
NM_000431.4(MVK):c.258G>A (p.Glu86=)	rs139299227	0.00003
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)	rs775474803	0.00001
NM_000431.4(MVK):c.126A>G (p.Gln42=)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.235G>T (p.Asp79Tyr)
NM_000431.4(MVK):c.33G>A (p.Pro11=)	rs779289416
NM_000431.4(MVK):c.384C>T (p.Ser128=)
NM_000431.4(MVK):c.508G>A (p.Asp170Asn)
NM_000431.4(MVK):c.535A>G (p.Lys179Glu)
NM_000431.4(MVK):c.690C>G (p.Leu230=)
NM_000431.4(MVK):c.734C>T (p.Ala245Val)
NM_000431.4(MVK):c.794T>G (p.Leu265Arg)	rs104895316

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