ClinVar Miner

List of variants in gene TRPS1 studied for not specified

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.-9dup rs35329862 0.30691
NM_014112.5(TRPS1):c.423G>T (p.Pro141=) rs7823278 0.13335
NM_014112.5(TRPS1):c.2700+10T>C rs76046106 0.03410
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_014112.5(TRPS1):c.2823+15C>A rs201296334 0.00143
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_014112.5(TRPS1):c.2503G>A (p.Glu835Lys) rs764414669
NM_014112.5(TRPS1):c.2700+29A>C rs2293889
NM_014112.5(TRPS1):c.3514G>C (p.Asp1172His) rs879255399
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)

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