ClinVar Miner

List of variants studied for chromosomal disorder by Solve-RD Consortium

Included ClinVar conditions (211):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232

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