ClinVar Miner

List of variants in gene KIDINS220 reported as uncertain significance for Inborn genetic diseases

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_020738.4(KIDINS220):c.2000T>C (p.Ile667Thr) rs139252608 0.00010
NM_020738.4(KIDINS220):c.1044T>G (p.Ile348Met) rs769877849 0.00009
NM_020738.4(KIDINS220):c.136G>A (p.Ala46Thr) rs188266397 0.00008
NM_020738.4(KIDINS220):c.3572C>G (p.Thr1191Arg) rs888064009 0.00004
NM_020738.4(KIDINS220):c.3581C>T (p.Ser1194Leu) rs549702212 0.00001
NM_020738.4(KIDINS220):c.3971A>G (p.Tyr1324Cys) rs747809218 0.00001
NM_020738.4(KIDINS220):c.1277G>A (p.Arg426Lys)
NM_020738.4(KIDINS220):c.1585T>A (p.Ser529Thr)
NM_020738.4(KIDINS220):c.1692G>C (p.Leu564Phe)
NM_020738.4(KIDINS220):c.2209A>C (p.Lys737Gln)
NM_020738.4(KIDINS220):c.2308G>A (p.Val770Met)
NM_020738.4(KIDINS220):c.2417G>A (p.Ser806Asn)
NM_020738.4(KIDINS220):c.2533A>G (p.Asn845Asp)
NM_020738.4(KIDINS220):c.2729A>G (p.Gln910Arg)
NM_020738.4(KIDINS220):c.2804G>A (p.Ser935Asn)
NM_020738.4(KIDINS220):c.3074T>A (p.Ile1025Lys)
NM_020738.4(KIDINS220):c.3440C>T (p.Thr1147Met)
NM_020738.4(KIDINS220):c.347G>A (p.Arg116His)
NM_020738.4(KIDINS220):c.3734G>A (p.Arg1245His)
NM_020738.4(KIDINS220):c.4054-2A>G rs1553305119
NM_020738.4(KIDINS220):c.4252A>T (p.Met1418Leu)
NM_020738.4(KIDINS220):c.4307G>A (p.Gly1436Glu)
NM_020738.4(KIDINS220):c.479G>A (p.Gly160Asp)
NM_020738.4(KIDINS220):c.481G>A (p.Ala161Thr)
NM_020738.4(KIDINS220):c.481G>T (p.Ala161Ser)
NM_020738.4(KIDINS220):c.491A>G (p.Asn164Ser)
NM_020738.4(KIDINS220):c.5008T>G (p.Cys1670Gly)
NM_020738.4(KIDINS220):c.5068G>A (p.Ala1690Thr)
NM_020738.4(KIDINS220):c.5147G>A (p.Ser1716Asn)
NM_020738.4(KIDINS220):c.5215C>T (p.Arg1739Cys)
NM_020738.4(KIDINS220):c.5254C>T (p.Leu1752Phe)
NM_020738.4(KIDINS220):c.635A>G (p.Lys212Arg)
NM_020738.4(KIDINS220):c.665T>G (p.Ile222Ser)
NM_020738.4(KIDINS220):c.742C>T (p.His248Tyr)
NM_020738.4(KIDINS220):c.766C>G (p.Leu256Val)
NM_020738.4(KIDINS220):c.769G>A (p.Asp257Asn)
NM_020738.4(KIDINS220):c.793C>T (p.Pro265Ser)

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