ClinVar Miner

List of variants reported as benign for immunodeficiency-centromeric instability-facial anomalies syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_031942.5(CDCA7):c.622-128C>T rs4972555 0.83121
NM_006892.4(DNMT3B):c.2302-212T>C rs4911263 0.79668
NM_006892.4(DNMT3B):c.*827A>G rs2424932 0.71093
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NC_000020.11:g.32762102T>C rs6087990 0.52775
NM_006892.4(DNMT3B):c.307-49C>T rs2424913 0.52532
NM_018063.5(HELLS):c.31+20T>C rs10882474 0.47048
NM_006892.4(DNMT3B):c.143-22del rs3835238 0.45870
NM_018063.5(HELLS):c.231A>C (p.Ile77=) rs11188019 0.45728
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_014797.3(ZBTB24):c.1552G>A (p.Ala518Thr) rs2232448 0.08337
NM_006892.4(DNMT3B):c.*443C>T rs6058896 0.07771
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657 0.05837
NM_014797.3(ZBTB24):c.1701C>T (p.Pro567=) rs2232449 0.02940
NM_006892.4(DNMT3B):c.1760-17C>T rs76661393 0.02476
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655 0.02475
NM_018063.5(HELLS):c.270A>G (p.Gln90=) rs58643119 0.02391
NM_014797.3(ZBTB24):c.579G>A (p.Gln193=) rs2227263 0.02261
NM_006892.4(DNMT3B):c.-274C>T rs139762513 0.02116
NM_014797.3(ZBTB24):c.1389C>G (p.Ser463=) rs2232447 0.01949
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_031942.5(CDCA7):c.1077C>G (p.Thr359=) rs116079323 0.01832
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965 0.01256
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_006892.4(DNMT3B):c.*75C>G rs6119971 0.00868
NM_006892.4(DNMT3B):c.*895T>C rs116329759 0.00684
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_014797.3(ZBTB24):c.1672G>A (p.Asp558Asn) rs61731736 0.00233
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185 0.00128
NM_014797.3(ZBTB24):c.783C>T (p.Ser261=) rs141440344 0.00081
NM_006892.4(DNMT3B):c.922-8C>T rs200508870 0.00076
NM_014797.3(ZBTB24):c.2070G>A (p.Thr690=) rs148353968 0.00076
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_014797.3(ZBTB24):c.1370+15A>T rs2232445 0.00056
NM_006892.4(DNMT3B):c.204+13C>T rs560602182 0.00054
NM_018063.5(HELLS):c.153+10G>T rs187469615 0.00038
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926 0.00037
NM_014797.3(ZBTB24):c.1204+5G>A rs80351559 0.00029
NM_006892.4(DNMT3B):c.2445C>T (p.Tyr815=) rs560320736 0.00027
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823 0.00027
NM_006892.4(DNMT3B):c.1923A>G (p.Pro641=) rs555058105 0.00025
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_006892.4(DNMT3B):c.307-15C>G rs150718732 0.00018
NM_006892.4(DNMT3B):c.1126+15T>C rs150368389 0.00016
NM_014797.3(ZBTB24):c.268C>T (p.Leu90=) rs779928437 0.00011
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=) rs144497819 0.00010
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) rs199763590 0.00008
NM_006892.4(DNMT3B):c.1215C>T (p.Asn405=) rs183617300 0.00004
NM_014797.3(ZBTB24):c.1746A>G (p.Gln582=) rs755334302 0.00001
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) rs35216603
NM_006892.4(DNMT3B):c.1760-5del
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006892.4(DNMT3B):c.1920C>T (p.Gly640=) rs532347792
NM_006892.4(DNMT3B):c.349C>T (p.His117Tyr) rs559899499
NM_014797.3(ZBTB24):c.1121-15del
NM_014797.3(ZBTB24):c.1121-6del
NM_014797.3(ZBTB24):c.1121-6dup
NM_014797.3(ZBTB24):c.1205-15dup
NM_014797.3(ZBTB24):c.1289-3del
NM_014797.3(ZBTB24):c.1289-3dup
NM_014797.3(ZBTB24):c.952+56ATA[2] rs76933246
NM_014797.3(ZBTB24):c.953-20T>A rs117893130
NM_031942.5(CDCA7):c.22-17G>T rs113611019
NM_031942.5(CDCA7):c.895-27C>G rs2288993

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