List of variants in gene DEPDC5 reported as pathogenic by OMIM

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)	rs564667614	0.00014
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)	rs587777459	0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)	rs587776973	0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	rs768241563	0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)	rs541024038	0.00001
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg)	rs1037878155
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)	rs879255234
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys)	rs953743301
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)	rs587777458
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)	rs587776975
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)	rs786205703
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)	rs587776974
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)	rs587776976
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)	rs886039253
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)	rs886039255
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)	rs587776977

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