ClinVar Miner

List of variants in gene LOC128706665, LOC128706666, MKKS studied for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_170784.3(MKKS):c.-384C>T rs568811798 0.00099
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met) rs554863155 0.00064
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr) rs536112369 0.00064
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg) rs145467994 0.00041
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
NM_170784.3(MKKS):c.-477G>T rs886056501 0.00016
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_170784.3(MKKS):c.-388A>G rs945662294 0.00001
NM_170784.3(MKKS):c.-481T>A rs886056502 0.00001
NM_170784.3(MKKS):c.-562C>T rs886056503 0.00001
NM_170784.3(MKKS):c.-649+2366C>T rs886056504 0.00001
NM_170784.3(MKKS):c.-406G>C rs886056500
NM_170784.3(MKKS):c.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.-649+2292del rs566962031

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