ClinVar Miner

List of variants studied for cataract 5 multiple types by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001538.3(HSF4):c.-944G>A rs61735433 0.04927
NM_001374675.1(HSF4):c.123+9C>T rs115335849 0.04892
NM_001538.4(HSF4):c.-250C>T rs140579779 0.02554
NM_001374675.1(HSF4):c.*89G>T rs11642409 0.00612
NM_001538.4(HSF4):c.-186C>T rs772601480 0.00221
NM_001538.4(HSF4):c.-191C>G rs769427775 0.00220
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_001538.3(HSF4):c.-832G>A rs201963745 0.00162
NM_001374675.1(HSF4):c.561+4T>G rs180744555 0.00158
NM_001538.3(HSF4):c.-880G>C rs201429195 0.00143
NM_001538.4(HSF4):c.-223C>T rs192479571 0.00105
NM_001538.4(HSF4):c.-244A>C rs754262946 0.00091
NM_001538.4(HSF4):c.-211A>G rs369313270 0.00078
NM_001374675.1(HSF4):c.63C>A (p.Leu21=) rs372135101 0.00041
NM_001374675.1(HSF4):c.627-11C>T rs199856104 0.00034
NM_001374675.1(HSF4):c.*8C>T rs372224972 0.00026
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn) rs200708134 0.00025
NM_001538.3(HSF4):c.-622G>C rs200404151 0.00024
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=) rs367756178 0.00016
NM_001538.3(HSF4):c.-772G>T rs201135322 0.00011
NM_001374675.1(HSF4):c.347G>A (p.Arg116His) rs79121622 0.00009
NM_001374675.1(HSF4):c.991G>A (p.Ala331Thr) rs199773890 0.00009
NM_001538.4(HSF4):c.-125C>T rs2272420 0.00009
NM_001538.4(HSF4):c.-198C>T rs893014096 0.00009
NM_001374675.1(HSF4):c.510G>A (p.Glu170=) rs372473149 0.00008
NM_001538.3(HSF4):c.*159T>C rs776129671 0.00008
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp) rs768152063 0.00007
NM_001538.4(HSF4):c.-419C>T rs562489000 0.00006
NM_001374675.1(HSF4):c.*148T>G rs985380596 0.00005
NM_001374675.1(HSF4):c.1127T>C (p.Leu376Pro) rs373962350 0.00004
NM_001374675.1(HSF4):c.394C>T (p.Arg132Cys) rs769736356 0.00004
NM_001374675.1(HSF4):c.854+5G>A rs775017771 0.00004
NM_001374675.1(HSF4):c.523C>G (p.Arg175Gly) rs377009893 0.00003
NM_001374675.1(HSF4):c.1325-1G>T rs142731757 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001538.3(HSF4):c.-874G>C rs936318443 0.00002
NM_001538.4(HSF4):c.-448A>G rs886052213 0.00002
NM_001374675.1(HSF4):c.-23C>T rs760188385 0.00001
NM_001374675.1(HSF4):c.1137G>A (p.Pro379=) rs369862977 0.00001
NM_001374675.1(HSF4):c.1315C>T (p.Pro439Ser) rs777720209 0.00001
NM_001374675.1(HSF4):c.1395C>A (p.Gly465=) rs28364624 0.00001
NM_001374675.1(HSF4):c.203T>C (p.Met68Thr) rs751405773 0.00001
NM_001374675.1(HSF4):c.401A>T (p.Glu134Val) rs368518618 0.00001
NM_001538.3(HSF4):c.-759A>G rs777343855 0.00001
NM_001538.3(HSF4):c.-833C>T rs1332713508 0.00001
NM_001374675.1(HSF4):c.104A>G (p.His35Arg) rs2031129932
NM_001374675.1(HSF4):c.1075C>A (p.Pro359Thr) rs886052216
NM_001374675.1(HSF4):c.1475C>A (p.Pro492His) rs182365484
NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly) rs886052215
NM_001374675.1(HSF4):c.594G>T (p.Ala198=) rs763541172
NM_001538.4(HSF4):c.-354C>A rs886052214
NM_001538.4(HSF4):c.-565G>A rs147591659

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