ClinVar Miner

List of variants in gene TRPS1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 23
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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.2658G>T (p.Ser886=) rs191525942 0.00158
NM_014112.5(TRPS1):c.2823+15C>A rs201296334 0.00143
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu) rs142784032 0.00134
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) rs201373462 0.00117
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln) rs199839411 0.00034
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) rs61745721 0.00034
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) rs200107935 0.00029
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) rs201770819 0.00026
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn) rs34474186 0.00013
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) rs140839419 0.00011
NM_014112.5(TRPS1):c.1210del (p.Ser404fs)
NM_014112.5(TRPS1):c.1404T>C (p.Tyr468=)
NM_014112.5(TRPS1):c.1875C>G (p.Val625=)
NM_014112.5(TRPS1):c.2207C>T (p.Thr736Ile)
NM_014112.5(TRPS1):c.2700+29A>C rs2293889
NM_014112.5(TRPS1):c.2947dup (p.Ser983fs)
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
NM_014112.5(TRPS1):c.3635T>G (p.Val1212Gly)
NM_014112.5(TRPS1):c.521C>T (p.Thr174Ile)

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