List of variants in gene DEPDC5 reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 22q12.2(chr22:32150908-32156688)x1
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x1
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x4
NM_001242896.3(DEPDC5):c.1324+3_1324+6del
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)	rs1057519107
NM_001242896.3(DEPDC5):c.1550_1565dup (p.Asp522delinsGluGluProGlyPheTer)	rs2088917801
NM_001242896.3(DEPDC5):c.2413del (p.Gln805fs)	rs2091205948
NM_001242896.3(DEPDC5):c.2633+2T>A	rs2091504320
NM_001242896.3(DEPDC5):c.625-2A>G	rs1400868304

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