ClinVar Miner

List of variants in gene HERC1 reported by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.3155-36G>A rs9920746 0.99753
NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp) rs2229749 0.82901
NM_003922.4(HERC1):c.12879A>T (p.Ile4293=) rs10851731 0.81440
NM_003922.4(HERC1):c.9223+19T>C rs2272209 0.81378
NM_003922.4(HERC1):c.9093G>A (p.Pro3031=) rs2228511 0.81362
NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala) rs2255243 0.81348
NM_003922.4(HERC1):c.5675-7A>G rs11630720 0.50655
NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val) rs2228510 0.47707
NM_003922.4(HERC1):c.11433+7T>C rs10519223 0.44503
NM_003922.4(HERC1):c.11739C>G (p.Leu3913=) rs2228517 0.43656
NM_003922.4(HERC1):c.3743-8A>G rs7176133 0.27023

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