ClinVar Miner

List of variants studied for cataract 5 multiple types by Invitae

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001374675.1(HSF4):c.123+9C>T rs115335849 0.04892
NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val) rs201011907 0.00303
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.250G>C (p.Val84Leu) rs747840876 0.00007
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp) rs199896245 0.00004
NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr) rs758027535 0.00004
NM_001374675.1(HSF4):c.1255-2A>G rs1456161420 0.00002
NM_001374675.1(HSF4):c.741G>A (p.Glu247=) rs373435397 0.00002
NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser) rs932918368 0.00001
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly) rs753084587 0.00001
NC_000016.9:g.(?_65821800)_(67208957_?)del
NM_001374675.1(HSF4):c.1162dup (p.Ser388fs) rs2145927381
NM_001374675.1(HSF4):c.1324+8T>A rs2145929301
NM_001374675.1(HSF4):c.1341C>G (p.Leu447=) rs35750776
NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)
NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)
NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp) rs2031203924
NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)
NM_001374675.1(HSF4):c.232+4A>G rs1567668314
NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)
NM_001374675.1(HSF4):c.330C>G (p.Arg110=) rs754881447
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
NM_001374675.1(HSF4):c.350T>G (p.Val117Gly) rs1555549881
NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp) rs1567668570
NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)
NM_001374675.1(HSF4):c.360G>A (p.Lys120=)
NM_001374675.1(HSF4):c.361-17G>A
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)
NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)
NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg) rs1567668765
NM_001374675.1(HSF4):c.561+16del
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)
NM_001374675.1(HSF4):c.730-22G>A
NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)
NM_001374675.1(HSF4):c.89del (p.Asp30fs) rs1555549755
NM_001374675.1(HSF4):c.965dup (p.Pro323fs) rs776129797

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