ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
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.370G>A (p.Gly124Ser) rs137853862
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

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