ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Q

Included ClinVar conditions (2):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu) rs35046964 0.00470
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val) rs145337285 0.00021
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) rs201369986 0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018706.7(DHTKD1):c.677G>A (p.Arg226Lys) rs775851398 0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) rs777908204 0.00001
NM_018706.7(DHTKD1):c.1391A>G (p.Glu464Gly) rs576359665
NM_018706.7(DHTKD1):c.1409del (p.Gly470fs) rs1281526839
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His)
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_018706.7(DHTKD1):c.2546A>T (p.Glu849Val) rs778723208
NM_018706.7(DHTKD1):c.2659del (p.Leu887fs) rs1833514594
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_018706.7(DHTKD1):c.63G>T (p.Trp21Cys)

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