List of variants in gene PUS1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.457G>A (p.Gly153Ser)	rs372753711	0.00004
NM_025215.6(PUS1):c.878A>C (p.Gln293Pro)	rs863224176	0.00001
NC_000012.11:g.(?_132416710)_(132416867_?)del
NM_025215.6(PUS1):c.303+1G>T
NM_025215.6(PUS1):c.304-2A>G	rs2136432221
NM_025215.6(PUS1):c.454dup (p.Ala152fs)	rs1555268564
NM_025215.6(PUS1):c.545-2A>G	rs1399740294
NM_025215.6(PUS1):c.74+2del

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