ClinVar Miner

List of variants in gene HELLS reported as benign for not provided

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018063.5(HELLS):c.31+20T>C rs10882474 0.47048
NM_018063.5(HELLS):c.231A>C (p.Ile77=) rs11188019 0.45728
NM_018063.5(HELLS):c.270A>G (p.Gln90=) rs58643119 0.02391
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_018063.5(HELLS):c.2T>C (p.Met1Thr) rs113154675 0.00481
NM_018063.5(HELLS):c.1032+10A>T rs116010492 0.00417
NM_018063.5(HELLS):c.1971C>T (p.Asn657=) rs145577611 0.00375
NM_018063.5(HELLS):c.2118T>C (p.Asp706=) rs77176332 0.00344
NM_018063.5(HELLS):c.1488+14G>A rs111813000 0.00323
NM_018063.5(HELLS):c.1965A>G (p.Glu655=) rs143960475 0.00185
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser) rs148139900 0.00166
NM_018063.5(HELLS):c.1488+6G>A rs142213941 0.00078
NM_018063.5(HELLS):c.153+10G>T rs187469615 0.00038
NM_018063.5(HELLS):c.334-19C>T rs188955699 0.00037
NM_018063.5(HELLS):c.1989G>A (p.Thr663=) rs144657635 0.00026
NM_018063.5(HELLS):c.1033-5del
NM_018063.5(HELLS):c.1230-10dup
NM_018063.5(HELLS):c.2249-3del
NM_018063.5(HELLS):c.2249-3dup rs763088239
NM_018063.5(HELLS):c.2422+21del rs756021887
NM_018063.5(HELLS):c.371-14dup
NM_018063.5(HELLS):c.371-5del
NM_018063.5(HELLS):c.371-5dup rs746750149
NM_018063.5(HELLS):c.91C>T (p.Leu31=) rs776501461

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