ClinVar Miner

List of variants studied for Desbuquois dysplasia 1 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP
NC_000016.9:g.(?_17202532)_(17564673_?)del
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807

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