List of variants in gene DENND5A studied for complex neurodevelopmental disorder

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_015213.4(DENND5A):c.2858-37A>G	rs10732517	0.99398
NM_015213.4(DENND5A):c.2607-19T>C	rs7123970	0.41264
NM_015213.4(DENND5A):c.670G>C (p.Glu224Gln)	rs952374	0.27376
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu)	rs146646020	0.00081
NM_015213.4(DENND5A):c.2542C>T (p.Arg848Cys)	rs148317700	0.00009
NM_015213.4(DENND5A):c.2840A>G (p.Asn947Ser)	rs779865474	0.00006
NM_015213.4(DENND5A):c.2050A>G (p.Ser684Gly)	rs1377065655	0.00004
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)	rs1057519563	0.00003
NM_015213.4(DENND5A):c.1940A>G (p.Asp647Gly)	rs1392402979	0.00001
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)	rs1057519564	0.00001
NM_015213.4(DENND5A):c.949+1G>A	rs1849592470	0.00001
NM_015213.4(DENND5A):c.1411C>T (p.Arg471Trp)
NM_015213.4(DENND5A):c.1483A>C (p.Asn495His)
NM_015213.4(DENND5A):c.1550G>A (p.Arg517Gln)
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly)	rs1057519309
NM_015213.4(DENND5A):c.2189T>C (p.Ile730Thr)	rs1848175647
NM_015213.4(DENND5A):c.2547del (p.Lys850fs)	rs1057519308
NM_015213.4(DENND5A):c.2660G>A (p.Trp887Ter)
NM_015213.4(DENND5A):c.2818G>A (p.Val940Ile)	rs1444738863
NM_015213.4(DENND5A):c.2908A>C (p.Met970Leu)	rs1162225544
NM_015213.4(DENND5A):c.3068A>T (p.Lys1023Ile)	rs372389104
NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)
NM_015213.4(DENND5A):c.3811del (p.Gln1271fs)	rs1057519310
NM_015213.4(DENND5A):c.517_518del (p.Asp173fs)	rs1057519307

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