ClinVar Miner

List of variants studied for neurodevelopmental disorder by Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School

Included ClinVar conditions (780):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001206999.2(CIT):c.412C>T (p.Gln138Ter) rs879255523 0.00001
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001206999.2(CIT):c.1111+1G>A rs879255522
NM_001206999.2(CIT):c.29_38del (p.Asn10fs) rs879253817
NM_001206999.2(CIT):c.473C>G (p.Pro158Arg) rs879255524

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