ClinVar Miner

List of variants in gene SPTAN1 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.3007-2A>G
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3520-2A>G
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
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.5194A>T (p.Ser1732Cys) rs2131744077
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.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
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.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
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.6959+1G>T
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797

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