ClinVar Miner

List of variants studied for obsolete rare pervasive developmental disorder by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001040424.3(PRDM15):c.2420G>A (p.Cys807Tyr) rs2061840290
NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly) rs2126497313
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) rs2103925559
NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)

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