ClinVar Miner

List of variants in gene CAMTA1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.878G>A (p.Arg293Gln) rs753954585 0.00043
NM_015215.4(CAMTA1):c.814G>A (p.Gly272Ser) rs201816354 0.00010
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00004
NM_015215.4(CAMTA1):c.1499G>C (p.Gly500Ala) rs944873688 0.00003
NM_015215.4(CAMTA1):c.3155C>T (p.Ala1052Val) rs772063088 0.00003
NM_015215.4(CAMTA1):c.1279G>A (p.Ala427Thr) rs201060099 0.00002
NM_015215.4(CAMTA1):c.319A>G (p.Met107Val) rs765321824 0.00002
NM_015215.4(CAMTA1):c.1000G>A (p.Val334Met)
NM_015215.4(CAMTA1):c.109A>G (p.Ile37Val)
NM_015215.4(CAMTA1):c.1138G>A (p.Gly380Ser)
NM_015215.4(CAMTA1):c.1240C>T (p.Pro414Ser)
NM_015215.4(CAMTA1):c.1327G>A (p.Ala443Thr)
NM_015215.4(CAMTA1):c.1384G>A (p.Glu462Lys)
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015215.4(CAMTA1):c.1522G>T (p.Val508Phe)
NM_015215.4(CAMTA1):c.153C>G (p.Ile51Met) rs1553156387
NM_015215.4(CAMTA1):c.1552G>A (p.Gly518Arg)
NM_015215.4(CAMTA1):c.1681A>T (p.Thr561Ser)
NM_015215.4(CAMTA1):c.1819C>G (p.His607Asp)
NM_015215.4(CAMTA1):c.2066A>T (p.Glu689Val)
NM_015215.4(CAMTA1):c.2081C>T (p.Thr694Ile)
NM_015215.4(CAMTA1):c.2104G>A (p.Glu702Lys)
NM_015215.4(CAMTA1):c.2106G>C (p.Glu702Asp)
NM_015215.4(CAMTA1):c.2347G>A (p.Val783Met)
NM_015215.4(CAMTA1):c.2481G>C (p.Gln827His)
NM_015215.4(CAMTA1):c.2606G>A (p.Arg869Gln)
NM_015215.4(CAMTA1):c.2681C>G (p.Pro894Arg)
NM_015215.4(CAMTA1):c.2769C>G (p.Cys923Trp)
NM_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu) rs113652510
NM_015215.4(CAMTA1):c.2873C>T (p.Pro958Leu)
NM_015215.4(CAMTA1):c.2915-2A>G
NM_015215.4(CAMTA1):c.3181A>G (p.Lys1061Glu)
NM_015215.4(CAMTA1):c.3191G>A (p.Arg1064His)
NM_015215.4(CAMTA1):c.3451G>C (p.Ala1151Pro)
NM_015215.4(CAMTA1):c.3546T>G (p.Cys1182Trp)
NM_015215.4(CAMTA1):c.3618A>T (p.Glu1206Asp)
NM_015215.4(CAMTA1):c.420del (p.Lys141fs) rs1553288266
NM_015215.4(CAMTA1):c.4307C>A (p.Thr1436Lys)
NM_015215.4(CAMTA1):c.4477G>A (p.Ala1493Thr)
NM_015215.4(CAMTA1):c.4667G>A (p.Arg1556His)
NM_015215.4(CAMTA1):c.4754A>G (p.Tyr1585Cys)
NM_015215.4(CAMTA1):c.4781G>A (p.Arg1594Gln)
NM_015215.4(CAMTA1):c.4792G>A (p.Val1598Met)
NM_015215.4(CAMTA1):c.4958+6C>G
NM_015215.4(CAMTA1):c.501G>A (p.Trp167Ter)
NM_015215.4(CAMTA1):c.575G>A (p.Cys192Tyr)
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter) rs1553238271
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_015215.4(CAMTA1):c.833G>C (p.Cys278Ser)
NM_015215.4(CAMTA1):c.939C>G (p.His313Gln)

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