ClinVar Miner

List of variants in gene PTH1R reported as likely benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601 0.00165
NM_000316.3(PTH1R):c.-37G>A rs201663714 0.00142
NM_000316.3(PTH1R):c.75+12G>A rs200603325 0.00081
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000316.3(PTH1R):c.1212-18C>T rs200401411 0.00008
NM_000316.3(PTH1R):c.1254C>T (p.Gly418=) rs750736467 0.00006
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872 0.00006
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054 0.00004
NM_000316.3(PTH1R):c.1396-19G>A rs370461607 0.00003
NM_000316.3(PTH1R):c.*7G>A rs199649688 0.00001
NM_000316.3(PTH1R):c.1117-8T>C rs749389822 0.00001
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) rs199670451 0.00001
NM_000316.3(PTH1R):c.615T>C (p.Ala205=) rs200829369 0.00001
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) rs73067029
NM_000316.3(PTH1R):c.638+12G>A rs375241177
NM_000316.3(PTH1R):c.638+12G>C rs375241177
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) rs201016660

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