ClinVar Miner

List of variants studied for Autosomal recessive congenital ichthyosis 6 by Institute for Human Genetics, University Medical Center Freiburg

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) rs775903553 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) rs750991783 0.00001
NM_001099287.2(NIPAL4):c.523del (p.His175fs) rs1212378071 0.00001
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) rs757041309 0.00001
NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) rs1581262988
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) rs1581273254
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) rs1581265715
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) rs900769357
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) rs371608909
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) rs777992589
NM_001099287.2(NIPAL4):c.37+5G>C rs1452328130
NM_001099287.2(NIPAL4):c.425+1G>A rs1581269752
NM_001099287.2(NIPAL4):c.426-3del rs1581271844
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) rs1581271869
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) rs1581272003
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) rs1027052344
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) rs1581272834
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) rs886060339
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) rs1581265561

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