List of variants in gene PUS1 studied for Myopathy, lactic acidosis, and sideroblastic anemia

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)	rs149378338	0.00233
NM_025215.6(PUS1):c.545-7C>T	rs201541270	0.00128
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)	rs202059921	0.00061
NM_025215.6(PUS1):c.207C>G (p.Leu69=)	rs140067992	0.00009
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)	rs776342428	0.00004
NM_025215.6(PUS1):c.789C>G (p.Ile263Met)	rs755760215	0.00003
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln)	rs146103500	0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=)	rs746905159	0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met)	rs1156671661	0.00001
NM_025215.6(PUS1):c.454dup (p.Ala152fs)	rs1555268564
NM_025215.6(PUS1):c.737A>G (p.His246Arg)	rs1891063731

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