ClinVar Miner

List of variants reported as uncertain significance for autosomal anomaly by Mendelics

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075

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