ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
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.4045C>T (p.Arg1349Trp) rs771862017 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.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys) rs754066930 0.00001
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364 0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 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.2869C>T (p.Arg957Trp) rs781689993 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 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.380T>A (p.Leu127Gln) rs768538310 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys) rs1251494639 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130438.3(SPTAN1):c.1085+4C>T
NM_001130438.3(SPTAN1):c.1123A>T (p.Ser375Cys)
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
NM_001130438.3(SPTAN1):c.1351G>T (p.Ala451Ser)
NM_001130438.3(SPTAN1):c.2041C>G (p.Gln681Glu)
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)
NM_001130438.3(SPTAN1):c.2366T>G (p.Leu789Arg) rs1852321788
NM_001130438.3(SPTAN1):c.2398A>G (p.Ile800Val)
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.2849G>A (p.Arg950Gln)
NM_001130438.3(SPTAN1):c.3187T>A (p.Ser1063Thr)
NM_001130438.3(SPTAN1):c.3508G>A (p.Val1170Met)
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.3719+5G>A
NM_001130438.3(SPTAN1):c.3864+5G>A
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4232A>C (p.Tyr1411Ser)
NM_001130438.3(SPTAN1):c.4241C>G (p.Pro1414Arg)
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4270G>A (p.Asp1424Asn)
NM_001130438.3(SPTAN1):c.4303G>A (p.Val1435Ile)
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.4574G>A (p.Arg1525Gln)
NM_001130438.3(SPTAN1):c.4596-5T>C rs770533632
NM_001130438.3(SPTAN1):c.4721C>T (p.Ala1574Val)
NM_001130438.3(SPTAN1):c.4759-5T>C
NM_001130438.3(SPTAN1):c.4825G>A (p.Asp1609Asn)
NM_001130438.3(SPTAN1):c.4827C>G (p.Asp1609Glu)
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.5514C>A (p.Asp1838Glu)
NM_001130438.3(SPTAN1):c.5648A>C (p.Asn1883Thr)
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
NM_001130438.3(SPTAN1):c.5750A>G (p.His1917Arg)
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly) rs2131968714
NM_001130438.3(SPTAN1):c.6676A>C (p.Ile2226Leu)
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.7053G>T (p.Gln2351His)
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys) rs772463904
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His) rs957046231
NM_001130438.3(SPTAN1):c.7285G>C (p.Val2429Leu)
NM_001130438.3(SPTAN1):c.7411A>G (p.Thr2471Ala) rs1589423479
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492

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