ClinVar Miner

List of variants in gene WHRN reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg) rs111373159 0.00047
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.2183G>A (p.Arg728His) rs138767834 0.00021
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) rs534523640 0.00014
NM_015404.4(WHRN):c.1049G>A (p.Arg350Gln) rs529362314 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.716C>T (p.Pro239Leu) rs180882127 0.00005
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_015404.4(WHRN):c.827A>T (p.Asp276Val) rs143202640 0.00003
NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu) rs771542666 0.00002
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015404.4(WHRN):c.1969G>C (p.Ala657Pro) rs758733083 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.360C>T (p.Thr120=) rs749635819 0.00001
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.406G>A (p.Gly136Arg) rs775689658

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