ClinVar Miner

List of variants in gene PTH1R reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
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.1672C>T (p.Pro558Ser) rs201625204 0.00013
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) rs547682383 0.00011
NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser) rs147371743 0.00008
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00008
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) rs151330461 0.00007
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_000316.3(PTH1R):c.543+4C>T rs199829955 0.00006
NM_000316.3(PTH1R):c.629C>T (p.Ala210Val) rs773638342 0.00006
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872 0.00006
NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr) rs140414216 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) rs201878291 0.00005
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054 0.00004
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724 0.00004
NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val) rs201474414 0.00004
NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) rs200817639 0.00004
NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys) rs200667470 0.00003
NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) rs139381461 0.00003
NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp) rs775797881 0.00002
NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) rs771579145 0.00002
NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) rs201363790 0.00001
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.137C>A (p.Ala46Asp) rs199670451 0.00001
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759 0.00001
NM_000316.3(PTH1R):c.57C>G (p.Leu19=) rs780469309 0.00001
NM_000316.3(PTH1R):c.691A>G (p.Met231Val) rs1353904110 0.00001
NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) rs387907462 0.00001
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1291G>A (p.Glu431Lys)
NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) rs2032196022
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) rs1575526869
NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) rs2032267228
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) rs2031851380
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) rs73067029
NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu) rs73067029
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.617T>C (p.Val206Ala) rs2031894011
NM_000316.3(PTH1R):c.638+11C>A rs1172297627
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) rs2031934502

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