ClinVar Miner

List of variants reported as likely benign for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001159773.2(CANT1):c.*1376C>G rs139673784
NM_001159773.2(CANT1):c.*157G>A
NM_001159773.2(CANT1):c.*1794T>G rs192546263
NM_001159773.2(CANT1):c.*696T>G
NM_001159773.2(CANT1):c.*998G>T
NM_001159773.2(CANT1):c.-96C>T rs143084065
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu) rs147074504
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) rs766521030
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) rs765001631
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983
NM_022166.4(XYLT1):c.2224-4T>A rs749488472
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) rs370511358
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) rs762851973

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