ClinVar Miner

List of variants in gene SPTAN1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 73
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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.6708-7C>T rs16930539 0.01980
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
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.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
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.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770 0.00021
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844 0.00014
NM_001130438.3(SPTAN1):c.1527C>T (p.His509=) rs201555611 0.00011
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=) rs765393647 0.00011
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.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=) rs578124150 0.00006
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=) rs148984013 0.00004
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=) rs577730526 0.00003
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=) rs371100708 0.00002
NM_001130438.3(SPTAN1):c.4758+3A>C rs774108521 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=) rs771555109 0.00001
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=) rs1329573763 0.00001
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=) rs756378105 0.00001
NM_001130438.3(SPTAN1):c.4758+10A>T rs1856301701 0.00001
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=) rs539062498 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.155A>G (p.Asp52Gly)
NM_001130438.3(SPTAN1):c.1666A>G (p.Asn556Asp)
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1727A>G (p.Gln576Arg)
NM_001130438.3(SPTAN1):c.1939G>T (p.Asp647Tyr)
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
NM_001130438.3(SPTAN1):c.2401C>T (p.Arg801Ter)
NM_001130438.3(SPTAN1):c.2931C>T (p.Asp977=)
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3661C>A (p.Leu1221Met)
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5517C>A (p.Asn1839Lys)
NM_001130438.3(SPTAN1):c.600T>C (p.Ala200=)
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
NM_001130438.3(SPTAN1):c.6113T>A (p.Ile2038Asn)
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6707+1164_6708-1168dup
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met) rs2132089093
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6960-4C>T
NM_001130438.3(SPTAN1):c.7014-1G>C
NM_001130438.3(SPTAN1):c.7405_7407del (p.Glu2469del)
NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His) rs2131014686

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