ClinVar Miner

List of variants reported as likely benign by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_016519.6(AMBN):c.882C>A (p.His294Gln) rs113506649 0.01779
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg) rs142733791 0.00263
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) rs150548113 0.00098
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) rs41273880 0.00066
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) rs201383337 0.00025
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_001366722.1(GRIP1):c.1688-3T>C rs185129168 0.00021
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573 0.00014

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