ClinVar Miner

List of variants in gene PTH1R studied for Eiken syndrome

Included ClinVar conditions (2):
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Total variants: 36
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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.1395+15G>A rs151077141 0.00747
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
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.1672C>T (p.Pro558Ser) rs201625204 0.00013
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) rs547682383 0.00011
NM_000316.3(PTH1R):c.1212-18C>T rs200401411 0.00008
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.1254C>T (p.Gly418=) rs750736467 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.1112T>C (p.Ile371Thr) rs140414216 0.00005
NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) rs201878291 0.00005
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.1396-19G>A rs370461607 0.00003
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.1117-8T>C rs749389822 0.00001
NM_000316.3(PTH1R):c.615T>C (p.Ala205=) rs200829369 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.1453C>T (p.Arg485Ter) rs121434603
NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) rs1575526869
NM_000316.3(PTH1R):c.178+28G>T rs724450
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu) 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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