ClinVar Miner

List of variants reported as pathogenic for X-linked ichthyosis syndrome

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
NM_000351.4:g.(?_6551155)_(8032120_?)del
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) rs1463414987
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
Single allele

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