ClinVar Miner

List of variants studied for neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys) rs752940799 0.00001
NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro) rs756008936 0.00001
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0
NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter) rs1574596084

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