ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00007
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr) rs375244907 0.00007
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00006
NM_001130438.3(SPTAN1):c.1645G>A (p.Asp549Asn) rs868661967 0.00005
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu) rs971082831 0.00004
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln) rs368406599 0.00004
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476 0.00004
NM_001130438.3(SPTAN1):c.1936A>G (p.Lys646Glu) rs903037131 0.00003
NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys) rs1473149290 0.00003
NM_001130438.3(SPTAN1):c.3448A>G (p.Ile1150Val) rs145516440 0.00003
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00003
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser) rs139943747 0.00003
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 0.00002
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His) rs957046231 0.00002
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys) rs754066930 0.00001
NM_001130438.3(SPTAN1):c.1085+4C>T rs778684585 0.00001
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2552T>C (p.Val851Ala) rs748110014 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2849G>A (p.Arg950Gln) rs771356826 0.00001
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp) rs781689993 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln) rs765075763 0.00001
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile) rs1850338993 0.00001
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys) rs756099218 0.00001
NM_001130438.3(SPTAN1):c.3719+5G>A rs761359644 0.00001
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln) rs768538310 0.00001
NM_001130438.3(SPTAN1):c.3980G>A (p.Arg1327His) rs537663540 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213 0.00001
NM_001130438.3(SPTAN1):c.4574G>A (p.Arg1525Gln) rs746373075 0.00001
NM_001130438.3(SPTAN1):c.4672C>T (p.Arg1558Trp) rs750465466 0.00001
NM_001130438.3(SPTAN1):c.4721C>T (p.Ala1574Val) rs779393978 0.00001
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys) rs1251494639 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5514C>A (p.Asp1838Glu) rs1857387414 0.00001
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys) rs748450616 0.00001
NM_001130438.3(SPTAN1):c.5750A>G (p.His1917Arg) rs1857804967 0.00001
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr) rs762645157 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130438.3(SPTAN1):c.6728C>T (p.Ser2243Leu) rs769859369 0.00001
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys) rs772463904 0.00001
NM_001130438.3(SPTAN1):c.7339G>A (p.Val2447Ile) rs764312862 0.00001
NM_001130438.3(SPTAN1):c.7411A>G (p.Thr2471Ala) rs1589423479 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.988A>G (p.Thr330Ala) rs924198534 0.00001
NM_001130438.3(SPTAN1):c.1111C>T (p.Arg371Cys)
NM_001130438.3(SPTAN1):c.1123A>T (p.Ser375Cys) rs1450981660
NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val) rs2131061695
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His) rs2540900123
NM_001130438.3(SPTAN1):c.1328C>G (p.Thr443Ser) rs1362629631
NM_001130438.3(SPTAN1):c.1342G>A (p.Glu448Lys)
NM_001130438.3(SPTAN1):c.1351G>T (p.Ala451Ser) rs2541118050
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val) rs149336930
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val) rs1851980146
NM_001130438.3(SPTAN1):c.164A>T (p.Glu55Val) rs2540900655
NM_001130438.3(SPTAN1):c.1693C>T (p.Arg565Cys)
NM_001130438.3(SPTAN1):c.1703A>G (p.Gln568Arg)
NM_001130438.3(SPTAN1):c.2041C>G (p.Gln681Glu) rs747183463
NM_001130438.3(SPTAN1):c.2129T>A (p.Leu710His)
NM_001130438.3(SPTAN1):c.2180T>G (p.Val727Gly)
NM_001130438.3(SPTAN1):c.2193+4G>A rs988247379
NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn) rs1554735370
NM_001130438.3(SPTAN1):c.2314C>T (p.Pro772Ser) rs2541200429
NM_001130438.3(SPTAN1):c.2366T>G (p.Leu789Arg) rs1852321788
NM_001130438.3(SPTAN1):c.2398A>G (p.Ile800Val) rs2541202592
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His) rs779633188
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2598C>A (p.His866Gln) rs1321026063
NM_001130438.3(SPTAN1):c.2774C>T (p.Ala925Val)
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln) rs1057521149
NM_001130438.3(SPTAN1):c.3144G>T (p.Gln1048His) rs2541401557
NM_001130438.3(SPTAN1):c.3187T>A (p.Ser1063Thr) rs759054756
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys) rs750290385
NM_001130438.3(SPTAN1):c.3508G>A (p.Val1170Met) rs1342900033
NM_001130438.3(SPTAN1):c.3669G>C (p.Glu1223Asp) rs747129367
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.3864+5G>A rs1855665122
NM_001130438.3(SPTAN1):c.3978A>T (p.Lys1326Asn) rs2541686507
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4084G>A (p.Val1362Met)
NM_001130438.3(SPTAN1):c.4203T>G (p.Phe1401Leu)
NM_001130438.3(SPTAN1):c.4232A>C (p.Tyr1411Ser) rs2541750816
NM_001130438.3(SPTAN1):c.4241C>G (p.Pro1414Arg) rs2541751051
NM_001130438.3(SPTAN1):c.4270G>A (p.Asp1424Asn) rs2541751778
NM_001130438.3(SPTAN1):c.4303G>A (p.Val1435Ile) rs761046056
NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp) rs1489830382
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4596-5T>C rs770533632
NM_001130438.3(SPTAN1):c.4759-5T>C rs1589317888
NM_001130438.3(SPTAN1):c.4825G>A (p.Asp1609Asn) rs2541834038
NM_001130438.3(SPTAN1):c.4827C>G (p.Asp1609Glu) rs2541834066
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4967G>A (p.Ser1656Asn)
NM_001130438.3(SPTAN1):c.5065G>A (p.Glu1689Lys)
NM_001130438.3(SPTAN1):c.5206G>C (p.Asp1736His) rs148294757
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5498A>G (p.Lys1833Arg)
NM_001130438.3(SPTAN1):c.5530G>C (p.Glu1844Gln) rs763507558
NM_001130438.3(SPTAN1):c.5586G>T (p.Gln1862His) rs2541953326
NM_001130438.3(SPTAN1):c.5648A>C (p.Asn1883Thr) rs200248814
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.6182C>T (p.Ala2061Val) rs2542190252
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6262C>G (p.Gln2088Glu) rs1443731115
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly) rs2131968714
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys) rs1589393382
NM_001130438.3(SPTAN1):c.6676A>C (p.Ile2226Leu) rs2542240918
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser) rs1160351543
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del) rs2542380287
NM_001130438.3(SPTAN1):c.7053G>T (p.Gln2351His) rs780213263
NM_001130438.3(SPTAN1):c.7079T>G (p.Leu2360Arg)
NM_001130438.3(SPTAN1):c.7285G>C (p.Val2429Leu) rs1344858192
NM_001130438.3(SPTAN1):c.7316C>A (p.Thr2439Asn) rs746532292
NM_001130438.3(SPTAN1):c.875C>T (p.Ala292Val)
NM_001130438.3(SPTAN1):c.922G>A (p.Glu308Lys) rs886063500
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492

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