ClinVar Miner

List of variants in gene SPTAN1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_001130438.2(SPTAN1):c.3580-5_3580-2delCCTA rs754528571
NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC rs769628464
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe) rs794727023
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=) rs1564223914
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys)
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val) rs886043530
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg) rs374801331
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His) rs1301624113
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr) rs886043546
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.7013+7T>C rs776507647
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085
NM_001130438.3(SPTAN1):c.761C>A (p.Ala254Glu) rs794727784
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136

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