ClinVar Miner

List of variants in gene SUMF1 reported as benign for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_182760.4(SUMF1):c.*10A>G rs35083095
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*189G>A
NM_182760.4(SUMF1):c.*210C>T
NM_182760.4(SUMF1):c.*214A>G rs2819562
NM_182760.4(SUMF1):c.*291G>A rs4685744
NM_182760.4(SUMF1):c.*292T>A rs74979662
NM_182760.4(SUMF1):c.*398C>T rs116909525
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*471T>G rs2259818
NM_182760.4(SUMF1):c.*518T>C rs17040504
NM_182760.4(SUMF1):c.*552T>G rs10514655
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*61T>C rs2819561
NM_182760.4(SUMF1):c.*675A>C rs14275
NM_182760.4(SUMF1):c.*805C>T rs79031951
NM_182760.4(SUMF1):c.*917G>T rs116661242
NM_182760.4(SUMF1):c.*92A>G
NM_182760.4(SUMF1):c.-9C>T rs148200251
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.602+50G>A rs711666
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.841-75C>T rs813811
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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