List of variants in gene MKKS reported as pathogenic for McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	rs74315396	0.00011
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	rs28937875	0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)	rs758356262	0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs)	rs867346158	0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)	rs142394051	0.00001
NM_170784.3(MKKS):c.986-1G>A	rs200633158	0.00001
NM_170784.3(MKKS):c.281del (p.Phe94fs)	rs587777827
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	rs2122235362

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