ClinVar Miner

List of variants reported as likely benign for cataract 5 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001538.4(HSF4):c.-250C>T rs140579779 0.02554
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_001374675.1(HSF4):c.561+4T>G rs180744555 0.00158
NM_001374675.1(HSF4):c.81G>A (p.Leu27=) rs375172660 0.00063
NM_001374675.1(HSF4):c.627-11C>T rs199856104 0.00034
NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn) rs200708134 0.00025
NM_001374675.1(HSF4):c.1476C>A (p.Pro492=) rs367756178 0.00016
NM_001374675.1(HSF4):c.510G>A (p.Glu170=) rs372473149 0.00008
NM_018378.3(FBXL8):c.*277C>T rs562489000 0.00006
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.1127T>C (p.Leu376Pro) rs373962350 0.00003
NM_001374675.1(HSF4):c.1137G>A (p.Pro379=) rs369862977 0.00003
NM_001374675.1(HSF4):c.523C>G (p.Arg175Gly) rs377009893 0.00003
NM_001374675.1(HSF4):c.1324+8T>A rs2145929301
NM_001374675.1(HSF4):c.330C>G (p.Arg110=) rs754881447
NM_001374675.1(HSF4):c.361-17G>A
NM_001374675.1(HSF4):c.561+16del
NM_001374675.1(HSF4):c.730-22G>A

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