ClinVar Miner

List of variants in gene PTH1R reported as uncertain significance for Eiken syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
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.1739G>A (p.Arg580Gln) rs199993460 0.00009
NM_000316.3(PTH1R):c.311G>A (p.Arg104Gln) rs199875878 0.00008
NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser) rs147371743 0.00007
NM_000316.3(PTH1R):c.543+4C>T rs199829955 0.00006
NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr) rs140414216 0.00005
NM_000316.3(PTH1R):c.157A>G (p.Lys53Glu) rs960888191 0.00005
NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) rs201878291 0.00005
NM_000316.3(PTH1R):c.629C>T (p.Ala210Val) rs773638342 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.1144G>A (p.Val382Ile) rs148778122 0.00003
NM_000316.3(PTH1R):c.136G>A (p.Ala46Thr) rs201320537 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.524C>G (p.Thr175Ser) rs749928840 0.00003
NM_000316.3(PTH1R):c.541C>T (p.Arg181Trp) rs202145297 0.00003
NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp) rs775797881 0.00002
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00002
NM_000316.3(PTH1R):c.1210C>T (p.Arg404Trp) rs375056411 0.00001
NM_000316.3(PTH1R):c.1211G>A (p.Arg404Gln) rs200410967 0.00001
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) rs199670451 0.00001
NM_000316.3(PTH1R):c.1574C>A (p.Thr525Asn) rs1166772026 0.00001
NM_000316.3(PTH1R):c.1665G>C (p.Met555Ile) rs1477030850 0.00001
NM_000316.3(PTH1R):c.691A>G (p.Met231Val) rs1353904110 0.00001
NM_000316.3(PTH1R):c.746C>T (p.Thr249Met) rs745456126 0.00001
NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) rs387907462 0.00001
NM_000316.3(PTH1R):c.817A>G (p.Thr273Ala) rs1220180474 0.00001
NM_000316.3(PTH1R):c.836C>T (p.Ala279Val) rs769883740 0.00001
NM_000316.3(PTH1R):c.988+4C>T rs201291962 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.1117-9C>T
NM_000316.3(PTH1R):c.1186C>T (p.Arg396Trp)
NM_000316.3(PTH1R):c.1187G>A (p.Arg396Gln)
NM_000316.3(PTH1R):c.1187G>C (p.Arg396Pro)
NM_000316.3(PTH1R):c.1195A>G (p.Thr399Ala)
NM_000316.3(PTH1R):c.125A>G (p.His42Arg)
NM_000316.3(PTH1R):c.1275G>A (p.Met425Ile)
NM_000316.3(PTH1R):c.1366G>A (p.Ala456Thr) rs199614910
NM_000316.3(PTH1R):c.1388A>G (p.Asn463Ser)
NM_000316.3(PTH1R):c.1420T>C (p.Trp474Arg)
NM_000316.3(PTH1R):c.1426C>T (p.Arg476Cys)
NM_000316.3(PTH1R):c.1462C>G (p.Arg488Gly)
NM_000316.3(PTH1R):c.1462C>T (p.Arg488Cys) rs199890811
NM_000316.3(PTH1R):c.1481A>G (p.Tyr494Cys) rs1302995148
NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) rs1575526869
NM_000316.3(PTH1R):c.1534G>A (p.Val512Met)
NM_000316.3(PTH1R):c.163G>T (p.Val55Phe)
NM_000316.3(PTH1R):c.1706C>T (p.Ser569Leu)
NM_000316.3(PTH1R):c.1756C>T (p.Gln586Ter)
NM_000316.3(PTH1R):c.221C>T (p.Thr74Ile)
NM_000316.3(PTH1R):c.253G>A (p.Gly85Arg)
NM_000316.3(PTH1R):c.26G>T (p.Gly9Val)
NM_000316.3(PTH1R):c.293C>T (p.Pro98Leu)
NM_000316.3(PTH1R):c.398A>C (p.Asp133Ala)
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000316.3(PTH1R):c.425-8A>T
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.504C>T (p.Ser168=)
NM_000316.3(PTH1R):c.51C>A (p.Pro17=)
NM_000316.3(PTH1R):c.574A>T (p.Thr192Ser)
NM_000316.3(PTH1R):c.670A>T (p.Met224Leu)
NM_000316.3(PTH1R):c.811C>T (p.Pro271Ser)
NM_000316.3(PTH1R):c.824C>T (p.Ala275Val)
NM_000316.3(PTH1R):c.937G>C (p.Ala313Pro)
NM_000316.3(PTH1R):c.988+15C>T
NM_000316.3(PTH1R):c.997G>A (p.Ala333Thr)

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