ClinVar Miner

List of variants reported as pathogenic for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome by Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_015426.5(POC1A):c.981+1G>A	rs780164701

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