ClinVar Miner

List of variants studied for Sclerosteosis 1 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_025237.3(SOST):c.70C>T (p.Gln24Ter) rs387906320 0.00001
NM_025237.3(SOST):c.372G>A (p.Trp124Ter) rs104894644
NM_025237.3(SOST):c.376C>T (p.Arg126Ter) rs104894645
NM_025237.3(SOST):c.[220+3A>T;221-67A>C]

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