ClinVar Miner

List of variants reported as likely pathogenic for Dandy-Walker syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108 0.00002
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382

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