ClinVar Miner

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

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) rs1138518 0.66915
NM_000316.3(PTH1R):c.543+14T>C rs114449768 0.02990
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
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.-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.313+4C>T rs200207404 0.00074
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_000316.3(PTH1R):c.75+9C>T rs200710310 0.00034
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765 0.00024
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) rs151330461 0.00007
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214 0.00001
NM_000316.3(PTH1R):c.1212-10G>A rs202090342 0.00001
NM_000316.3(PTH1R):c.*127dup rs142021243
NM_000316.3(PTH1R):c.178+28G>T rs724450
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) rs201016660

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