ClinVar Miner

List of variants in gene WDR72 reported as pathogenic for amelogenesis imperfecta type 2

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) rs267607178
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093

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