ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 48
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=)
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=)
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3936A>G (p.Glu1312=)
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281
NM_001130438.3(SPTAN1):c.4099C>T (p.Leu1367=) rs1564278985
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=)
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
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.6699C>T (p.Leu2233=) rs1564320456
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=)
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.7227G>A (p.Lys2409=) rs1564332163
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442

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