ClinVar Miner

List of variants in gene LOC129998021, TWIST1 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389 0.00046
NM_000474.4(TWIST1):c.546G>T (p.Arg182=) rs115322362 0.00001
NC_000007.14:g.(?_19116693)_(19117341_?)del
NM_000474.4(TWIST1):c.399_423dup (p.Lys142fs) rs2486049592
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn) rs2486049601
NM_000474.4(TWIST1):c.423C>G (p.Asp141Glu)
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) rs1788580326
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) rs1788580225
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser) rs1788580225
NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del) rs2115396610
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) rs1788579980
NM_000474.4(TWIST1):c.451C>G (p.Leu151Val) rs2115396601
NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro) rs754179756
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val) rs1554441982
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter) rs778800284
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) rs2115396578
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val) rs1563159945
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe) rs1563159945
NM_000474.4(TWIST1):c.476T>A (p.Leu159His) rs1585616825
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) rs1585616825
NM_000474.4(TWIST1):c.480C>A (p.Tyr160Ter)
NM_000474.4(TWIST1):c.481C>T (p.Gln161Ter) rs1372603694
NM_000474.4(TWIST1):c.484del (p.Val162fs) rs1788579060
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro) rs2486049396
NM_000474.4(TWIST1):c.489C>G (p.Leu163=)
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr) rs200793804
NM_000474.4(TWIST1):c.510dup (p.Lys171fs) rs2115396517
NM_000474.4(TWIST1):c.518del (p.Ala173fs) rs2115396502
NM_000474.4(TWIST1):c.530_537dup (p.His180fs) rs2115396467
NM_000474.4(TWIST1):c.540_550del (p.His180fs)
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr) rs121909190
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) rs121909191
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile) rs1788576976
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) rs2115396414
NM_000474.4(TWIST1):c.600G>C (p.Ala200=) rs925739879

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