ClinVar Miner

List of variants in gene SPTAN1 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00379
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438 0.00061
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618 0.00043
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132 0.00038
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=) rs201249013 0.00031
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529 0.00022
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088 0.00020
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342 0.00017
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897 0.00014
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844 0.00014
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855 0.00014
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448 0.00014
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550 0.00012
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=) rs765393647 0.00011
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293 0.00009
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626 0.00008
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113 0.00008
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=) rs373857333 0.00006
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=) rs578124150 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.3915G>A (p.Glu1305=) rs761628910 0.00005
NM_001130438.3(SPTAN1):c.391T>C (p.Trp131Arg) rs142120579 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912 0.00005
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu) rs971082831 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.2277G>A (p.Gln759=) rs746674327 0.00004
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=) rs780858157 0.00004
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln) rs368406599 0.00004
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=) rs369531936 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4662A>G (p.Gln1554=) rs767679923 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509 0.00004
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476 0.00004
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
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.2287G>A (p.Val763Met) rs372062686 0.00003
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532 0.00003
NM_001130438.3(SPTAN1):c.5469G>A (p.Pro1823=) rs142234188 0.00003
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008 0.00003
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.3936A>G (p.Glu1312=) rs767678599 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=) rs371100708 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001130438.3(SPTAN1):c.6300C>G (p.Thr2100=) rs370624702 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=) rs551663711 0.00002
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 0.00002
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys) rs754066930 0.00001
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017 0.00001
NM_001130438.3(SPTAN1):c.1248C>T (p.Ser416=) rs1851708614 0.00001
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075 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.1687A>G (p.Met563Val) rs1344488286 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 0.00001
NM_001130438.3(SPTAN1):c.1821A>G (p.Leu607=) rs774410639 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2354G>A (p.Arg785Gln) rs780875433 0.00001
NM_001130438.3(SPTAN1):c.2552T>C (p.Val851Ala) rs748110014 0.00001
NM_001130438.3(SPTAN1):c.2645G>A (p.Arg882His) rs1486021166 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.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile) rs1850338993 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.3633G>A (p.Leu1211=) rs1484600745 0.00001
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys) rs756099218 0.00001
NM_001130438.3(SPTAN1):c.3741A>G (p.Glu1247=) rs1248662462 0.00001
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln) rs768538310 0.00001
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=) rs745997127 0.00001
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281 0.00001
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170 0.00001
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=) rs1220521892 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636 0.00001
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys) rs1251494639 0.00001
NM_001130438.3(SPTAN1):c.510A>G (p.Ala170=) rs1404143666 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=) rs766550915 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7339G>A (p.Val2447Ile) rs764312862 0.00001
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His) rs747510615 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001130438.3(SPTAN1):c.1085+4C>T
NM_001130438.3(SPTAN1):c.1123A>T (p.Ser375Cys)
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
NM_001130438.3(SPTAN1):c.1351G>T (p.Ala451Ser)
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)
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.2412G>C (p.Glu804Asp) rs767815914
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.2548A>G (p.Met850Val) rs371776794
NM_001130438.3(SPTAN1):c.2849G>A (p.Arg950Gln)
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3187T>A (p.Ser1063Thr)
NM_001130438.3(SPTAN1):c.3439T>C (p.Leu1147=)
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.379C>G (p.Leu127Val)
NM_001130438.3(SPTAN1):c.3864+5G>A
NM_001130438.3(SPTAN1):c.3865-4A>T rs769349794
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4099C>T (p.Leu1367=) rs1564278985
NM_001130438.3(SPTAN1):c.4138C>A (p.Arg1380=)
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.4630A>C (p.Arg1544=) rs373650761
NM_001130438.3(SPTAN1):c.4630A>G (p.Arg1544Gly)
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.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5514C>A (p.Asp1838Glu)
NM_001130438.3(SPTAN1):c.5648A>C (p.Asn1883Thr)
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=) rs867428978
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
NM_001130438.3(SPTAN1):c.5750A>G (p.His1917Arg)
NM_001130438.3(SPTAN1):c.5868G>T (p.Met1956Ile)
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
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.6501A>G (p.Val2167=) rs867703193
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly) rs2131968714
NM_001130438.3(SPTAN1):c.6676A>C (p.Ile2226Leu)
NM_001130438.3(SPTAN1):c.6699C>T (p.Leu2233=) rs1564320456
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
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.7227G>A (p.Lys2409=) rs1564332163
NM_001130438.3(SPTAN1):c.7285G>C (p.Val2429Leu)
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
NM_001130438.3(SPTAN1):c.7411A>G (p.Thr2471Ala) rs1589423479
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492

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