ClinVar Miner

List of variants reported as pathogenic for brachydactyly type B2 by OMIM

Included ClinVar conditions (2):

Brachydactyly type B2
Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A

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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_005450.6(NOG):c.103C>G (p.Pro35Ala)	rs28937580
NM_005450.6(NOG):c.103C>T (p.Pro35Ser)	rs28937580
NM_005450.6(NOG):c.499C>G (p.Arg167Gly)	rs121908949

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