ClinVar Miner

List of variants studied for mandibulofacial dysostosis by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00004
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139

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