ClinVar Miner

List of variants reported as benign for autosomal ichthyosis syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_004782.4(SNAP29):c.-19C>T rs1061063
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_021978.4(ST14):c.1113+15G>A rs597661
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614

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