ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 122
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HGVS dbSNP
NC_000009.11:g.(?_131375660)_(131375764_?)del
NM_001130438.2(SPTAN1):c.6762+3_6762+6delAAGT rs1554768212
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His) rs201948749
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu)
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr) rs1060503490
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro) rs1554751018
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys) rs1379161622
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.3(SPTAN1):c.4046+6G>A
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys) rs1564278853
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp) rs150944593
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr)
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro) rs1060503491
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4758+3A>C
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro) rs1554759970
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser) rs1287628912
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val) rs781083220
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr) rs878854246
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn) rs778709187
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=) rs1554766786
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His) rs763928650
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly)
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6959+4C>T
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
NM_001130438.3(SPTAN1):c.7161-9C>G
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val) rs768195496
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys) rs1160694512
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136

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