List of variants in gene HERC2 studied for multiple congenital anomalies/dysmorphic syndrome

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.3687C>T (p.Asp1229=)	rs149204675	0.00190
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)	rs148150960	0.00031
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys)	rs117802902	0.00025
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val)	rs138177581	0.00023
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His)	rs368463146	0.00005
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met)	rs149338352	0.00004
NM_004667.6(HERC2):c.7069+3G>A	rs778173804	0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)	rs759661460	0.00003
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)	rs1377524842	0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)	rs1009967374	0.00001
NM_004667.6(HERC2):c.11701-1G>A	rs1891259083

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