ClinVar Miner

List of variants in gene SKI reported by New York Genome Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00003
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) rs367916348 0.00002
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) rs2100925789
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576

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