List of variants reported as pathogenic for Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)	rs145661597	0.00016
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_001081.4(CUBN):c.1865del (p.Thr622fs)	rs386833771	0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	rs759203841	0.00001
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)	rs386833775
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)	rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)	rs386833778
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)	rs2131697094
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	rs1161400848
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)

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