List of variants in gene NIPAL4 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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
A114N
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.520_526del (p.Ile174fs)	rs1561831443
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.897C>A (p.Tyr299Ter)	rs373501601
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs)	rs1581265561

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