List of variants in gene MKKS reported as benign for autosomal recessive disease

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.117C>T (p.Pro39=)	rs16991547	0.18435
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)	rs1547	0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)	rs1545	0.14147
NM_170784.3(MKKS):c.*435G>A	rs6108549	0.14136
NM_170784.3(MKKS):c.*392T>C	rs2294901	0.14121
NM_170784.3(MKKS):c.534C>T (p.Ile178=)	rs17852625	0.14082
NM_170784.3(MKKS):c.985+16T>G	rs6133917	0.14080
NM_170784.3(MKKS):c.*38A>G	rs79940214	0.02456
NM_170784.3(MKKS):c.*46G>T	rs74703166	0.02454
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)	rs61734546	0.01201
NM_170784.3(MKKS):c.-58T>C	rs114068950	0.00943
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)	rs150920905	0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)	rs74315394	0.00508
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)	rs137853909	0.00359
NM_170784.3(MKKS):c.-74G>A	rs113994194	0.00070
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)	rs145045986	0.00031
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)	rs201785599	0.00006
NM_170784.3(MKKS):c.986-4dup

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