ClinVar Miner

List of variants studied for Kennedy disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740 0.00018
NM_000044.6(AR):c.7G>A (p.Val3Met) rs778912582 0.00002
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[22] (p.Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564

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