ClinVar Miner

List of variants reported as likely pathogenic for intellectual disability-sparse hair-brachydactyly syndrome by Baylor Genetics

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg)	rs1821581008
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)	rs1554623112
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)	rs1586692551

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