List of variants in gene NUP205 studied for kidney disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015135.3(NUP205):c.4066G>C (p.Glu1356Gln)	rs7810767	0.98537
NM_015135.3(NUP205):c.4793+11G>A	rs7810260	0.45427
NM_015135.3(NUP205):c.649-11T>C	rs10252250	0.39418
NM_015135.3(NUP205):c.5559+4C>T	rs10260691	0.31332
NM_015135.3(NUP205):c.4425C>T (p.Ala1475=)	rs146766044	0.00259
NM_015135.3(NUP205):c.490C>T (p.Pro164Ser)	rs150542529	0.00113
NM_015135.3(NUP205):c.2961C>G (p.Ile987Met)	rs61756073	0.00021
NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)	rs2486149925	0.00001
NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)	rs959518364	0.00001
NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser)	rs869312984	0.00001
NM_015135.3(NUP205):c.821C>T (p.Ala274Val)	rs767119190	0.00001
NM_015135.3(NUP205):c.1851A>C (p.Ala617=)	rs7800214
NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)	rs2486143144
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro)	rs1584675898
NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)	rs2486236618

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