ClinVar Miner

List of variants in gene HERC2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.1012T>G (p.Leu338Val) rs61754656 0.00123
NM_004667.6(HERC2):c.4625G>A (p.Arg1542His) rs112385654 0.00063
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) rs200864382 0.00044
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) rs140440992 0.00024
NM_004667.6(HERC2):c.1150G>A (p.Glu384Lys) rs772532798 0.00011
NM_004667.6(HERC2):c.1442C>T (p.Thr481Met) rs200457382 0.00009
NM_004667.6(HERC2):c.9831+7C>T rs1488970600 0.00006
NM_004667.6(HERC2):c.406T>G (p.Ser136Ala) rs751003786 0.00004
NM_004667.6(HERC2):c.215A>C (p.Lys72Thr) rs781528176 0.00003
NM_004667.6(HERC2):c.4723G>A (p.Glu1575Lys) rs772998165 0.00002
NM_004667.6(HERC2):c.6379A>G (p.Arg2127Gly) rs771392120 0.00002
NM_004667.6(HERC2):c.1088T>G (p.Leu363Trp) rs1596359979 0.00001
NM_004667.6(HERC2):c.4892C>T (p.Pro1631Leu) rs563823025 0.00001
NM_004667.6(HERC2):c.11159C>G (p.Ser3720Cys)
NM_004667.6(HERC2):c.1205G>A (p.Arg402His)
NM_004667.6(HERC2):c.13229G>A (p.Arg4410His)
NM_004667.6(HERC2):c.1627G>A (p.Ala543Thr)
NM_004667.6(HERC2):c.2048A>G (p.Lys683Arg)
NM_004667.6(HERC2):c.2549C>T (p.Pro850Leu) rs534865714
NM_004667.6(HERC2):c.4317G>T (p.Leu1439Phe) rs1902121638
NM_004667.6(HERC2):c.8198A>T (p.Glu2733Val)
NM_004667.6(HERC2):c.8318G>T (p.Ser2773Ile) rs1566991722
NM_004667.6(HERC2):c.8338G>A (p.Asp2780Asn)
NM_004667.6(HERC2):c.9607A>C (p.Asn3203His) rs1895307345

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