ClinVar Miner

List of variants in gene CA4 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000717.5(CA4):c.-24G>C rs345191 0.03134
NM_000717.5(CA4):c.204A>G (p.Gly68=) rs35468643 0.01491
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_000717.5(CA4):c.*17G>A rs2229179 0.00893
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_000717.5(CA4):c.-47C>G rs367981628 0.00279
NM_000717.5(CA4):c.492G>A (p.Ala164=) rs139119204 0.00264
NM_000717.5(CA4):c.*59G>A rs530720914 0.00195
NM_000717.5(CA4):c.375C>T (p.Gly125=) rs148870395 0.00188
NM_000717.5(CA4):c.869C>T (p.Pro290Leu) rs146141867 0.00150
NM_000717.5(CA4):c.531C>A (p.Asn177Lys) rs185942554 0.00077
NM_000717.5(CA4):c.807T>C (p.Asn269=) rs142961963 0.00057
NM_000717.5(CA4):c.681G>A (p.Pro227=) rs144467811 0.00029
NM_000717.5(CA4):c.744+3G>A rs373253742 0.00026
NM_000717.5(CA4):c.761A>C (p.Gln254Pro) rs150432787 0.00026
NM_000717.5(CA4):c.58+10C>G rs756230727 0.00025
NM_000717.5(CA4):c.575A>G (p.Lys192Arg) rs147624521 0.00021
NM_000717.5(CA4):c.258C>T (p.Asn86=) rs185476073 0.00019
NM_000717.5(CA4):c.40C>T (p.Arg14Trp) rs104894559 0.00014
NM_000717.5(CA4):c.235C>A (p.Gln79Lys) rs531909330 0.00012
NM_000717.5(CA4):c.435A>G (p.Lys145=) rs201241903 0.00012
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_000717.5(CA4):c.753A>T (p.Ala251=) rs140515828 0.00009
NM_000717.5(CA4):c.206G>A (p.Arg69His) rs121434552 0.00004
NM_000717.5(CA4):c.861G>A (p.Pro287=) rs962446098 0.00004
NM_000717.5(CA4):c.128G>T (p.Gly43Val) rs563335203 0.00001
NM_000717.5(CA4):c.162C>G (p.Ile54Met) rs778411450 0.00001
NM_000717.5(CA4):c.288C>T (p.Asn96=) rs749532892 0.00001
NM_000717.5(CA4):c.357C>T (p.Ser119=) rs765898059 0.00001
NM_000717.5(CA4):c.800A>G (p.Lys267Arg) rs187221698 0.00001
NM_000717.5(CA4):c.*78T>C rs372423531
NM_000717.5(CA4):c.203G>A (p.Gly68Glu)
NM_000717.5(CA4):c.210C>A (p.Phe70Leu) rs886053185
NM_000717.5(CA4):c.214T>C (p.Phe72Leu)
NM_000717.5(CA4):c.468C>T (p.Ala156=)
NM_000717.5(CA4):c.483C>T (p.Asp161=)
NM_000717.5(CA4):c.501C>G (p.Ala167=)
NM_000717.5(CA4):c.655C>A (p.Arg219Ser) rs121434551
NM_000717.5(CA4):c.686G>A (p.Cys229Tyr) rs759956725
NM_000717.5(CA4):c.687C>A (p.Cys229Ter)
NM_000717.5(CA4):c.699C>T (p.Val233=) rs764759588
NM_000717.5(CA4):c.787A>G (p.Thr263Ala)
NM_000717.5(CA4):c.788C>G (p.Thr263Arg)
NM_000717.5(CA4):c.802G>A (p.Asp268Asn)
NM_000717.5(CA4):c.937T>C (p.Ter313Arg)

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