List of variants in gene ZNF513 reported as uncertain significance for Retinitis Pigmentosa, Dominant

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)	rs112828880	0.00620
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln)	rs141337532	0.00115
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)	rs371030335	0.00024
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)	rs201047611	0.00016
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)	rs140620118	0.00007
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)	rs267607182	0.00005
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln)	rs139008988	0.00004
NM_144631.6(ZNF513):c.322C>A (p.Pro108Thr)	rs374110410	0.00001
NM_144631.5(ZNF513):c.-213G>A	rs886055911
NM_144631.6(ZNF513):c.-203dup	rs886055910
NM_144631.6(ZNF513):c.536_537insGC (p.Cys180fs)	rs1558312832
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr)	rs886055908
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val)	rs886055907

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