ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome by Mendelics

Included ClinVar conditions (2):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) rs751429016 0.00002
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) rs1599367870

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