ClinVar Miner

List of variants in gene KIZ studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_018474.6(KIZ):c.707T>C (p.Met236Thr) rs2236178 0.66729
NM_018474.6(KIZ):c.1809C>T (p.Phe603=) rs34011504 0.00950
NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala) rs151319642 0.00412
NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys) rs80251208 0.00225
NM_018474.6(KIZ):c.892G>A (p.Gly298Arg) rs191064527 0.00113
NM_018474.6(KIZ):c.961T>C (p.Ser321Pro) rs116937124 0.00016
NM_018474.6(KIZ):c.119_122del (p.Lys40fs) rs587777377 0.00008
NM_018474.6(KIZ):c.1382C>T (p.Pro461Leu) rs758224894 0.00006
NM_018474.6(KIZ):c.1783+15A>G rs756423093 0.00005
NM_018474.6(KIZ):c.942A>G (p.Lys314=) rs185395297 0.00004
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) rs775124094 0.00002
NM_018474.6(KIZ):c.775C>T (p.Arg259Cys) rs763100442 0.00002
NM_018474.6(KIZ):c.318C>T (p.Leu106=) rs1477553904 0.00001
NM_018474.6(KIZ):c.117G>T (p.Lys39Asn)
NM_018474.6(KIZ):c.1181C>T (p.Pro394Leu)
NM_018474.6(KIZ):c.1264G>T (p.Ala422Ser)
NM_018474.6(KIZ):c.1326A>G (p.Glu442=)
NM_018474.6(KIZ):c.1386_1387insA (p.Ala463fs)
NM_018474.6(KIZ):c.1387dup (p.Ala463fs) rs11087346
NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs) rs890128759
NM_018474.6(KIZ):c.1549A>G (p.Asn517Asp)
NM_018474.6(KIZ):c.1801G>A (p.Gly601Ser)
NM_018474.6(KIZ):c.193G>A (p.Glu65Lys)
NM_018474.6(KIZ):c.383T>G (p.Leu128Arg) rs2032807362
NM_018474.6(KIZ):c.417C>G (p.His139Gln) rs4815025
NM_018474.6(KIZ):c.605A>G (p.Asn202Ser)
NM_018474.6(KIZ):c.868G>A (p.Asp290Asn)
NM_018474.6(KIZ):c.931G>A (p.Val311Ile)
NM_018474.6(KIZ):c.932_934del (p.Val311del) rs1462900742

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