List of variants in gene RUSC2 reported as uncertain significance for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)	rs61740253	0.00257
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys)	rs146271483	0.00064
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp)	rs200798902	0.00016
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu)	rs894040978	0.00006
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln)	rs746338510	0.00005
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln)	rs200756109	0.00004
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg)	rs761728678	0.00004
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His)	rs753457122	0.00002
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp)	rs756124282	0.00002
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu)	rs763555777	0.00001
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp)	rs201335495	0.00001
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys)	rs1486315197	0.00001
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala)	rs145303576	0.00001
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln)	rs1041188721	0.00001
NM_014806.5(RUSC2):c.853A>G (p.Ser285Gly)	rs1444513149	0.00001
NM_014806.5(RUSC2):c.1525G>C (p.Val509Leu)
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile)	rs762004622
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys)	rs1563876680
NM_014806.5(RUSC2):c.567C>A (p.His189Gln)	rs1030373633
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr)	rs1821748484

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