ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697

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