ClinVar Miner

List of variants studied for McKusick-Kaufman syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.1646T>C (p.Leu549Pro)
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.466A>C (p.Ser156Arg)

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