List of variants in gene SPTAN1 reported as likely pathogenic for infancy electroclinical syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)	rs201693154	0.00001
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)	rs2131030804
NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)
NM_001130438.3(SPTAN1):c.1462-2A>G
NM_001130438.3(SPTAN1):c.1649del (p.Ala550fs)
NM_001130438.3(SPTAN1):c.3007-2A>G
NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter)
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)	rs1564197227
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)	rs1853920585
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)	rs1554756114
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)	rs1851109762
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)	rs1589311413
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)	rs1856289676
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	rs1131691643
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)	rs2131682815
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)	rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)	rs2130975930
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.5768dup (p.Asp1923fs)
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)	rs2131953982
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)	rs1589393179
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)	rs2131985621
NM_001130438.3(SPTAN1):c.6690-17G>A	rs1554767335
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)	rs2132088836
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)	rs796053327
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)	rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)	rs1554768992
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)	rs1554769022
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)	rs2131011877
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)	rs2131012797

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