ClinVar Miner

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

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Gene type:
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Total variants: 11
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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.668G>A (p.Arg223His) rs146273185 0.00122
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004

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