ClinVar Miner

List of variants in gene SPTAN1 reported as likely pathogenic

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Total variants: 11
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.2308_2310del (p.Lys770del) rs1554746442
NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del) rs796053332
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918dup (p.Gln2304_Gly2306dup) rs796053334
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099

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