List of variants in gene HUWE1 studied for Intellectual disability

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu)	rs140366563	0.00006
NM_031407.7(HUWE1):c.1125G>T (p.Met375Ile)	rs1043071474	0.00001
NM_031407.7(HUWE1):c.2615G>A (p.Arg872Gln)	rs782162014	0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)	rs782315292	0.00001
NM_031407.7(HUWE1):c.10610C>A (p.Pro3537His)	rs1309601872
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)	rs1556912828
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala)	rs2065846967
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn)	rs2067907694
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)	rs2067904283
NM_031407.7(HUWE1):c.6200C>T (p.Pro2067Leu)	rs2062957071
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile)	rs2066881864
NM_031407.7(HUWE1):c.6751G>A (p.Glu2251Lys)	rs2062464352
NM_031407.7(HUWE1):c.7945A>G (p.Thr2649Ala)	rs2062162493
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876

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