List of variants in gene TSEN2 reported as uncertain significance for Pontocerebellar hypoplasia type 2B

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)	rs75288720	0.00287
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)	rs145142315	0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)	rs202097247	0.00037
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)	rs201214741	0.00011
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)	rs35557378	0.00007
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met)	rs772061041	0.00007
NM_025265.4(TSEN2):c.1087G>A (p.Gly363Arg)	rs755513460	0.00002
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)	rs111535594	0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)	rs202056552	0.00002
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00002
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)	rs778603443	0.00001
NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)	rs2471780550
NM_025265.4(TSEN2):c.1355G>T (p.Arg452Leu)	rs773082232
NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)	rs770578452

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