ClinVar Miner

List of variants in gene MKKS reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NC_000020.10:g.(?_10385875)_(10394182_?)del
NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_170784.2(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_170784.2(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.2(MKKS):c.155G>A (p.Gly52Asp) rs28937875
NM_170784.2(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_170784.2(MKKS):c.172_175dup (p.Gln59fs)
NM_170784.2(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.2(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.2(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.2(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.2(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.2(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.2(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.2(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_170784.2(MKKS):c.873_876dup (p.Cys293fs) rs113994196

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