ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Faculty of Engineering and Natural Sciences, Biruni University

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.9776G>A (p.Arg3259Gln) rs767883289 0.00001
NM_001365999.1(SZT2):c.8589del (p.His2863fs)
NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)

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