ClinVar Miner

List of variants in gene CAMTA1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.4307C>A (p.Thr1436Lys) rs758706493 0.00011
NM_015215.4(CAMTA1):c.109A>G (p.Ile37Val) rs149423434 0.00008
NM_015215.4(CAMTA1):c.4607G>A (p.Arg1536Gln) rs749129823 0.00005
NM_015215.4(CAMTA1):c.2606G>A (p.Arg869Gln) rs755672826 0.00004
NM_015215.4(CAMTA1):c.1279G>A (p.Ala427Thr) rs201060099 0.00003
NM_015215.4(CAMTA1):c.1552G>A (p.Gly518Arg) rs140699847 0.00003
NM_015215.4(CAMTA1):c.1603G>A (p.Glu535Lys) rs746906253 0.00003
NM_015215.4(CAMTA1):c.2104G>A (p.Glu702Lys) rs752430411 0.00003
NM_015215.4(CAMTA1):c.2481G>C (p.Gln827His) rs775627962 0.00003
NM_015215.4(CAMTA1):c.319A>G (p.Met107Val) rs765321824 0.00003
NM_015215.4(CAMTA1):c.4781G>A (p.Arg1594Gln) rs753292802 0.00003
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00003
NM_015215.4(CAMTA1):c.1138G>A (p.Gly380Ser) rs2095980057 0.00002
NM_015215.4(CAMTA1):c.1499G>C (p.Gly500Ala) rs944873688 0.00002
NM_015215.4(CAMTA1):c.1544C>T (p.Ser515Leu) rs558047708 0.00002
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys) rs200732212 0.00002
NM_015215.4(CAMTA1):c.4792G>A (p.Val1598Met) rs140973258 0.00002
NM_015215.4(CAMTA1):c.1240C>T (p.Pro414Ser) rs2095980832 0.00001
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn) rs749008073 0.00001
NM_015215.4(CAMTA1):c.1522G>T (p.Val508Phe) rs763188050 0.00001
NM_015215.4(CAMTA1):c.2066A>T (p.Glu689Val) rs769308213 0.00001
NM_015215.4(CAMTA1):c.2425G>A (p.Gly809Arg) rs748817784 0.00001
NM_015215.4(CAMTA1):c.2704T>C (p.Tyr902His) rs767334417 0.00001
NM_015215.4(CAMTA1):c.3181A>G (p.Lys1061Glu) rs1271273391 0.00001
NM_015215.4(CAMTA1):c.3191G>A (p.Arg1064His) rs370990159 0.00001
NM_015215.4(CAMTA1):c.3451G>C (p.Ala1151Pro) rs1313438106 0.00001
NM_015215.4(CAMTA1):c.4477G>A (p.Ala1493Thr) rs1353421341 0.00001
NM_015215.4(CAMTA1):c.4588C>T (p.Leu1530Phe) rs757973349 0.00001
NM_015215.4(CAMTA1):c.4667G>A (p.Arg1556His) rs1233149008 0.00001
NM_015215.4(CAMTA1):c.4754A>G (p.Tyr1585Cys) rs765858953 0.00001
NM_015215.4(CAMTA1):c.4999A>T (p.Ile1667Phe) rs1433359142 0.00001
NM_015215.4(CAMTA1):c.700A>G (p.Ser234Gly) rs1434924870 0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) rs758739555 0.00001
NM_015215.4(CAMTA1):c.1342G>T (p.Gly448Cys) rs1439677467
NM_015215.4(CAMTA1):c.1421G>C (p.Arg474Pro)
NM_015215.4(CAMTA1):c.1536C>G (p.Ile512Met)
NM_015215.4(CAMTA1):c.153C>G (p.Ile51Met) rs1553156387
NM_015215.4(CAMTA1):c.1652C>T (p.Ser551Phe)
NM_015215.4(CAMTA1):c.1778A>G (p.Lys593Arg)
NM_015215.4(CAMTA1):c.1819C>G (p.His607Asp) rs2523730387
NM_015215.4(CAMTA1):c.2081C>T (p.Thr694Ile) rs2523738928
NM_015215.4(CAMTA1):c.2106G>C (p.Glu702Asp) rs1235566484
NM_015215.4(CAMTA1):c.2162C>T (p.Pro721Leu)
NM_015215.4(CAMTA1):c.2219T>C (p.Val740Ala) rs2523743551
NM_015215.4(CAMTA1):c.2278C>T (p.Leu760Phe)
NM_015215.4(CAMTA1):c.2338T>G (p.Phe780Val)
NM_015215.4(CAMTA1):c.2347G>A (p.Val783Met) rs370719100
NM_015215.4(CAMTA1):c.2356G>A (p.Gly786Ser) rs2095988288
NM_015215.4(CAMTA1):c.2507C>T (p.Ser836Leu)
NM_015215.4(CAMTA1):c.2554G>A (p.Val852Ile)
NM_015215.4(CAMTA1):c.2591T>G (p.Leu864Arg)
NM_015215.4(CAMTA1):c.2603G>A (p.Gly868Glu)
NM_015215.4(CAMTA1):c.2637G>C (p.Glu879Asp)
NM_015215.4(CAMTA1):c.2681C>G (p.Pro894Arg) rs368483417
NM_015215.4(CAMTA1):c.2718T>A (p.Phe906Leu)
NM_015215.4(CAMTA1):c.2769C>G (p.Cys923Trp) rs2523922137
NM_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu) rs113652510
NM_015215.4(CAMTA1):c.2873C>T (p.Pro958Leu) rs2524127257
NM_015215.4(CAMTA1):c.2941G>A (p.Glu981Lys) rs2523005251
NM_015215.4(CAMTA1):c.3020G>A (p.Ser1007Asn)
NM_015215.4(CAMTA1):c.3108C>A (p.Ser1036Arg)
NM_015215.4(CAMTA1):c.3460C>T (p.Arg1154Trp)
NM_015215.4(CAMTA1):c.3485G>A (p.Cys1162Tyr) rs1264304450
NM_015215.4(CAMTA1):c.3512A>G (p.Gln1171Arg)
NM_015215.4(CAMTA1):c.3542A>C (p.His1181Pro) rs1280981383
NM_015215.4(CAMTA1):c.3618A>T (p.Glu1206Asp) rs1057341659
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys) rs2096854165
NM_015215.4(CAMTA1):c.4622G>A (p.Arg1541Gln)
NM_015215.4(CAMTA1):c.4835A>G (p.Lys1612Arg)
NM_015215.4(CAMTA1):c.4861G>A (p.Val1621Met)
NM_015215.4(CAMTA1):c.487C>T (p.Arg163Trp)
NM_015215.4(CAMTA1):c.4913A>G (p.Gln1638Arg)
NM_015215.4(CAMTA1):c.4958+6C>G rs764073129
NM_015215.4(CAMTA1):c.575G>A (p.Cys192Tyr) rs2523093124
NM_015215.4(CAMTA1):c.665T>A (p.Phe222Tyr)
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_015215.4(CAMTA1):c.833G>C (p.Cys278Ser) rs2149152782
NM_015215.4(CAMTA1):c.902C>G (p.Ser301Trp)
NM_015215.4(CAMTA1):c.926C>T (p.Ser309Leu) rs1417768010
NM_015215.4(CAMTA1):c.939C>G (p.His313Gln) rs373350834

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