List of variants in gene RBP3 reported as pathogenic by Invitae

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_002900.3(RBP3):c.802A>T (p.Lys268Ter)	rs1253286238	0.00005
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)	rs782245537	0.00001
NM_002900.3(RBP3):c.1394G>A (p.Trp465Ter)	rs1346464839	0.00001
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter)	rs781881541	0.00001
NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	rs146150511	0.00001
NM_002900.3(RBP3):c.3320del (p.Leu1107fs)	rs782492315	0.00001
NC_000010.10:g.(?_48382532)_(48388342_?)del
NM_002900.3(RBP3):c.1227del (p.Val411fs)
NM_002900.3(RBP3):c.1279del (p.Asp427fs)	rs2132253612
NM_002900.3(RBP3):c.1405C>T (p.Gln469Ter)	rs2132253752
NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)	rs782574616
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)	rs1555211286
NM_002900.3(RBP3):c.1683G>A (p.Trp561Ter)
NM_002900.3(RBP3):c.2074G>T (p.Glu692Ter)	rs150902800
NM_002900.3(RBP3):c.2086del (p.Asp696fs)	rs2132254606
NM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter)
NM_002900.3(RBP3):c.2434_2437del (p.Val812fs)	rs2132255138
NM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter)
NM_002900.3(RBP3):c.2575_2584del (p.Met859fs)	rs2132255385
NM_002900.3(RBP3):c.2824C>T (p.Gln942Ter)	rs781985780
NM_002900.3(RBP3):c.2866G>T (p.Glu956Ter)
NM_002900.3(RBP3):c.288del (p.Glu97fs)	rs782634926
NM_002900.3(RBP3):c.2905C>T (p.Gln969Ter)
NM_002900.3(RBP3):c.304del (p.Val102fs)
NM_002900.3(RBP3):c.421C>T (p.Gln141Ter)
NM_002900.3(RBP3):c.445G>T (p.Glu149Ter)	rs782463303
NM_002900.3(RBP3):c.529del (p.Val177fs)	rs1836898982
NM_002900.3(RBP3):c.632G>A (p.Trp211Ter)	rs1480910058
NM_002900.3(RBP3):c.705del (p.Arg236fs)
NM_002900.3(RBP3):c.901del (p.Val301fs)	rs2132253074

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