ClinVar Miner

List of variants in gene TRPS1 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter) rs1057518791
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs) rs1817986949
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe) rs1817974591
NM_014112.5(TRPS1):c.1919_2096+2929del
NM_014112.5(TRPS1):c.2096+1G>A
NM_014112.5(TRPS1):c.2097-2A>C
NM_014112.5(TRPS1):c.2719del (p.Val907fs)
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2757_2758dup (p.Trp920fs)
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu) rs2129751692
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs) rs1812876043
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter) rs1818358114
NM_014112.5(TRPS1):c.967-1G>T rs2130494791

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