List of variants in gene SEPSECS reported as likely pathogenic for Pontocerebellar hypoplasia type 2D

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)	rs1025711998	0.00006
NM_016955.4(SEPSECS):c.388+3A>G	rs757504141	0.00006
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)	rs745870736	0.00005
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_016955.4(SEPSECS):c.389-1G>A	rs754373273	0.00002
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)	rs761072755	0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)	rs779387647	0.00001
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)	rs267607036
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)	rs781277383
NM_016955.4(SEPSECS):c.1321G>A (p.Gly441Arg)
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)	rs773876739
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)	rs1309003036
NM_016955.4(SEPSECS):c.388+5G>A	rs1057518887
NM_016955.4(SEPSECS):c.440G>A (p.Ser147Asn)
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)	rs1712612053

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