ClinVar Miner

List of variants in gene HERC2 studied for Prader-Willi syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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