ClinVar Miner

List of variants in gene CIT studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) rs278109 0.85234
NM_001206999.2(CIT):c.753+47A>G rs4767849 0.59872
NM_001206999.2(CIT):c.2880T>C (p.Ala960=) rs904655 0.57517
NM_001206999.2(CIT):c.2871A>G (p.Thr957=) rs904654 0.50582
NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) rs278102 0.24929
NM_001206999.2(CIT):c.3157-11C>T rs11064891 0.24533
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) rs145731510 0.00151
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile) rs200184645 0.00007
NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) rs564447434 0.00007
NM_001206999.2(CIT):c.1031G>T (p.Gly344Val) rs149806257 0.00003
NM_001206999.2(CIT):c.412C>T (p.Gln138Ter) rs879255523 0.00001
NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) rs779515686 0.00001
NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys) rs759128008 0.00001
NM_001206999.2(CIT):c.4898G>A (p.Arg1633His) rs774006998 0.00001
NM_001206999.2(CIT):c.652G>A (p.Val218Met) rs777293258 0.00001
NM_001206999.2(CIT):c.67C>T (p.Arg23Trp) rs372379880 0.00001
NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg) rs1252357911
NM_001206999.2(CIT):c.1111+1G>A rs879255522
NM_001206999.2(CIT):c.1121C>A (p.Pro374His)
NM_001206999.2(CIT):c.1296-2A>G
NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys)
NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp)
NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser)
NM_001206999.2(CIT):c.2532-6del rs34851548
NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) rs1593597170
NM_001206999.2(CIT):c.29_38del (p.Asn10fs) rs879253817
NM_001206999.2(CIT):c.3157-5T>G rs1958639710
NM_001206999.2(CIT):c.317G>T (p.Gly106Val) rs886037892
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) rs2138306726
NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) rs886037893
NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp)
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207
NM_001206999.2(CIT):c.4617del (p.Asp1541fs) rs2137067282
NM_001206999.2(CIT):c.473C>G (p.Pro158Arg) rs879255524
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
NM_001206999.2(CIT):c.644T>C (p.Met215Thr) rs1968834418
NM_001206999.2(CIT):c.689A>T (p.Asp230Val) rs886037894
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
NM_001206999.2(CIT):c.753+3A>T rs886037895
NM_001206999.2(CIT):c.938A>G (p.Asn313Ser)
NM_001206999.2(CIT):c.957+1G>T rs1968060326

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