ClinVar Miner

List of variants in gene JMJD8, STUB1 studied for Inborn genetic diseases

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.575A>G (p.His192Arg) rs538288405 0.00007
NM_005861.4(STUB1):c.581G>A (p.Arg194Gln) rs377648766 0.00004
NM_005861.4(STUB1):c.626C>T (p.Ala209Val) rs759212540 0.00003
NM_005861.4(STUB1):c.532G>C (p.Glu178Gln)
NM_005861.4(STUB1):c.553G>A (p.Glu185Lys) rs757171182
NM_005861.4(STUB1):c.658G>A (p.Glu220Lys) rs767441746
NM_005861.4(STUB1):c.756C>G (p.Tyr252Ter)
NM_005861.4(STUB1):c.786+5G>C

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