List of variants reported as likely pathogenic for Dandy-Walker syndrome

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Total variants: 16

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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_001383.6(DPH1):c.686T>C (p.Leu229Pro)	rs730882250
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	rs730882245
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623
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
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)	rs1114167296
NM_177433.3(MAGED2):c.1003del (p.Gln335fs)	rs1114167295

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