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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln)	rs1471482709	0.00001
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln)	rs281875199
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)	rs281875188
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)	rs281875197
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)	rs281875187

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