ClinVar Miner

List of variants in gene KIDINS220 studied for hereditary spastic paraplegia

Included ClinVar conditions (140):
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_020738.4(KIDINS220):c.2849-25T>A rs12476359 0.97631
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His) rs1044280 0.26219
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=) rs61742863 0.06114
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 0.00627
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu) rs202094672 0.00127
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile) rs200104720 0.00093
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser) rs77973158 0.00024
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=) rs150868908 0.00021
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=) rs369693571 0.00018
NM_020738.4(KIDINS220):c.207+3A>G rs374940372 0.00010
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His) rs368435770 0.00003
NM_020738.4(KIDINS220):c.1012C>T (p.Pro338Ser) rs1461764281 0.00001
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln) rs755319483 0.00001
NM_020738.4(KIDINS220):c.3955T>C (p.Ser1319Pro) rs1310173085 0.00001
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg) rs569904858 0.00001
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met) rs771589853 0.00001
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
NM_020738.4(KIDINS220):c.2370+5G>A
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val) rs1671352434
NM_020738.4(KIDINS220):c.256A>T (p.Ile86Phe)
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg) rs1376895839
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
NM_020738.4(KIDINS220):c.3415-4A>G rs1666821581
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.3529-5G>T
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter) rs1664428695
NM_020738.4(KIDINS220):c.3991delinsAGCCCTACACACTCAAC (p.Glu1331fs)
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter) rs1057519300
NM_020738.4(KIDINS220):c.4053+1G>A
NM_020738.4(KIDINS220):c.4053+1G>T rs1664419023
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter) rs1057519301
NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter) rs1553305080
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)
NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter) rs2147945457
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs) rs2147945425
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs) rs34141362
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs) rs1057519302
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter) rs1664085645
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)
NM_020738.4(KIDINS220):c.4654G>A (p.Val1552Met)
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser) rs2147943225
NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro) rs1664034594
NM_020738.4(KIDINS220):c.5032C>T (p.Arg1678Ter)
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs) rs1131692229
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val) rs1675445207
NM_020738.4(KIDINS220):c.856C>T (p.Arg286Ter)
NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)
NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)
NM_020738.4(KIDINS220):c.900+5G>A rs772773265
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)

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