ClinVar Miner

List of variants reported as benign for Distal hereditary motor neuropathy type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_205836.3(FBXO38):c.1619-4G>T rs11168047 0.42278
NM_205836.3(FBXO38):c.3170+11T>C rs10051223 0.42131
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro) rs10043775 0.27167
NM_205836.3(FBXO38):c.962+18A>G rs10077690 0.20380
NM_205836.3(FBXO38):c.2680G>A (p.Ala894Thr) rs11949133 0.03254
NM_205836.3(FBXO38):c.2654-16T>C rs147707335 0.02178
NM_205836.3(FBXO38):c.198A>G (p.Leu66=) rs74863106 0.01749
NM_205836.3(FBXO38):c.593-13A>T rs61555444 0.00559
NM_205836.3(FBXO38):c.87T>C (p.Tyr29=) rs77480566 0.00254
NM_205836.3(FBXO38):c.1093+20A>C rs140611091 0.00033
NM_205836.3(FBXO38):c.504T>C (p.Phe168=) rs377754520 0.00029
NM_205836.3(FBXO38):c.2985C>T (p.Pro995=) rs144172824 0.00025
NM_205836.3(FBXO38):c.702A>G (p.Leu234=) rs144011381 0.00020
NM_205836.3(FBXO38):c.1394G>A (p.Arg465His) rs200187682 0.00010
NM_205836.3(FBXO38):c.1738+8T>A rs369463389 0.00009
NM_205836.3(FBXO38):c.1527C>T (p.His509=) rs182585967 0.00004
NM_205836.3(FBXO38):c.2751G>A (p.Val917=) rs201169649 0.00004
NM_205836.3(FBXO38):c.2858-18A>G rs376871117 0.00002
NM_205836.3(FBXO38):c.510T>C (p.Asn170=) rs760368532 0.00002
NM_205836.3(FBXO38):c.1739-4del rs761558731
NM_205836.3(FBXO38):c.1739-4dup rs761558731
NM_205836.3(FBXO38):c.2440G>T (p.Ala814Ser) rs201680339
NM_205836.3(FBXO38):c.2857+21_2857+23del rs143121025
NM_205836.3(FBXO38):c.2858-20C>T
NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=) rs577469242
NM_205836.3(FBXO38):c.731-5del
NM_205836.3(FBXO38):c.731-5dup rs201558003
NM_205836.3(FBXO38):c.731-6_731-5dup rs201558003

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