ClinVar Miner

List of variants studied for caudal duplication

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln) rs34015754 0.00811
NM_003502.4(AXIN1):c.2403G>A (p.Arg801=) rs113073289 0.00535
AXIN1, PROMOTER HYPERMETHYLATION

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