ClinVar Miner

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

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Total variants: 17
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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.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752

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