ClinVar Miner

List of variants studied for dental enamel hypoplasia by Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.4156+2dup
NM_152222.2(RELT):c.260A>T (p.Asp87Val)
NM_152222.2(RELT):c.521T>G (p.Leu174Arg)

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