ClinVar Miner

List of variants reported as benign for autism spectrum disorder - epilepsy - arthrogryposis syndrome

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) rs534252 0.22875
NM_012243.3(SLC35A3):c.-19+415A>G rs11166383 0.03792
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile) rs74102304 0.03461
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) rs745545998 0.00001
NM_012243.3(SLC35A3):c.635-3dup
NM_012243.3(SLC35A3):c.887+25dup

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