ClinVar Miner

List of variants reported as pathogenic by Richard Lifton Laboratory, Yale University School of Medicine

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) rs199469629 0.00002
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) rs199469642 0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643 0.00001
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) rs199469645 0.00001
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) rs199469646 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 0.00001
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) rs786205050 0.00001
NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala) rs587781260
NM_003590.5(CUL3):c.1207-12T>G rs199469651
NM_003590.5(CUL3):c.1207-1G>A rs199469654
NM_003590.5(CUL3):c.1207-26A>G rs199469650
NM_003590.5(CUL3):c.1207-28T>G rs199469649
NM_003590.5(CUL3):c.1207-3C>T rs199469653
NM_003590.5(CUL3):c.1207-5T>A rs199469652
NM_003590.5(CUL3):c.1236G>A (p.Leu412=) rs199469655
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) rs199469656
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) rs199469658
NM_003590.5(CUL3):c.1376_1377+4del rs199469657
NM_003590.5(CUL3):c.1377+1G>C rs199469660
NM_003590.5(CUL3):c.1377+1dup rs199469659
NM_003590.5(CUL3):c.1377+3A>G rs199469661
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) rs199469628
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) rs199469630
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) rs199469641
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) rs199469632
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) rs199469644
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) rs199469633
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) rs199469634
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) rs199469623
NM_017415.3(KLHL3):c.232A>G (p.Met78Val) rs199469624
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) rs199469625
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) rs199469637
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) rs199469626
NM_017415.3(KLHL3):c.721del (p.Leu241fs) rs199469647
NM_017415.3(KLHL3):c.753+1G>A rs199469648
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) rs199469627
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) rs199469639

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