List of variants in gene HERC2 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_004667.6(HERC2):c.4009C>T (p.Leu1337Phe)	rs145594989	0.00991
NM_004667.6(HERC2):c.10274C>T (p.Pro3425Leu)	rs147705404	0.00400
NM_004667.6(HERC2):c.5440A>G (p.Thr1814Ala)	rs138650689	0.00266
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile)	rs139953376	0.00265
NM_004667.6(HERC2):c.5429T>C (p.Met1810Thr)	rs142072884	0.00260
NM_004667.6(HERC2):c.7058C>G (p.Thr2353Ser)	rs145370046	0.00155
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp)	rs200823016	0.00150
NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile)	rs146366728	0.00121
NM_004667.6(HERC2):c.2945A>G (p.His982Arg)	rs748362699	0.00004
NM_004667.6(HERC2):c.5132C>T (p.Thr1711Ile)	rs751891639	0.00003
NM_004667.6(HERC2):c.1083C>T (p.His361=)	rs142059352	0.00001

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