ClinVar Miner

List of variants in gene SKI reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_003036.4(SKI):c.1025A>G (p.Gln342Arg) rs377336741
NM_003036.4(SKI):c.1124G>A (p.Arg375His) rs762209697
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1994C>T (p.Ala665Val) rs1557854261

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