List of variants in gene WDR45 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001029896.2(WDR45):c.337G>A (p.Asp113Asn)	rs376936511	0.00010
NM_001029896.2(WDR45):c.257G>A (p.Arg86Gln)	rs147437546	0.00003
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)	rs782562675	0.00001
NM_001029896.2(WDR45):c.244del (p.Trp82fs)	rs2065040342
NM_001029896.2(WDR45):c.340_341+2del	rs2147816494
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	rs797046101
NM_001029896.2(WDR45):c.437-6C>G	rs1602538405
NM_001029896.2(WDR45):c.584T>G (p.Ile195Arg)	rs1569523472
NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer)	rs2065032149
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	rs387907329
NM_001029896.2(WDR45):c.745T>G (p.Ser249Ala)	rs1557083992
NM_001029896.2(WDR45):c.745_746inv (p.Ser249Asp)
NM_001029896.2(WDR45):c.746C>A (p.Ser249Tyr)	rs1557083988
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs)	rs1569523457
NM_001029896.2(WDR45):c.770dup (p.Asp257fs)	rs2065031075
NM_001029896.2(WDR45):c.827+1G>A	rs1557083958

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