ClinVar Miner

List of variants reported as benign for Trichohepatoenteric syndrome 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014639.4(SKIC3):c.-228+8T>C rs2560277 0.45198
NM_014639.4(SKIC3):c.1309C>G (p.Leu437Val) rs17084873 0.23217
NM_014639.4(SKIC3):c.3888G>T (p.Arg1296Ser) rs2303650 0.22528
NM_014639.4(SKIC3):c.3342-37del rs35823895

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