ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4508657_4508905del
NC_000003.12:g.(?_4362134)_(4362264_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NC_000006.11:g.(?_137166776_137167549del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NM_000288.4(PEX7):c.131-1G>A
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
NM_006846.4(SPINK5):c.2441+3_2441+6del
NM_006846.4(SPINK5):c.81+5G>A
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_182760.4(SUMF1):c.1040del (p.Ala347fs)
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.445-1G>A
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.603-1G>C
NM_182760.4(SUMF1):c.726-1G>A
NM_182760.4(SUMF1):c.726-1G>C
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.954+1G>T

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