ClinVar Miner

List of variants reported as uncertain significance for pseudohypoparathyroidism type 1B

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001001433.3(STX16):c.*114C>T rs191638951 0.00054
NM_001001433.3(STX16):c.*1488A>C rs565168524 0.00050
NM_001001433.3(STX16):c.*2137C>T rs886056861 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_001001433.3(STX16):c.*2152G>A rs1027698811 0.00011
NM_001001433.3(STX16):c.*2016G>T rs779563360 0.00010
NM_001001433.3(STX16):c.*648A>C rs980469101 0.00010
NM_001001433.3(STX16):c.*2095C>T rs577869699 0.00009
NM_001001433.3(STX16):c.*952C>A rs886056854 0.00009
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_001001433.3(STX16):c.*173C>G rs765639298 0.00006
NM_001001433.3(STX16):c.*2499C>T rs886056866 0.00006
NM_001001433.3(STX16):c.*3093A>G rs886056869 0.00006
NM_001001433.3(STX16):c.776C>T (p.Ala259Val) rs371863588 0.00006
NM_001001433.3(STX16):c.*2276G>C rs886086537 0.00005
NM_001001433.3(STX16):c.*1160G>A rs886056855 0.00004
NM_001001433.3(STX16):c.*1378A>T rs750137163 0.00004
NM_001001433.3(STX16):c.*2138G>A rs535827417 0.00004
NM_001001433.3(STX16):c.*441C>G rs886056852 0.00004
NM_001001433.3(STX16):c.-409G>A rs886056844 0.00004
NM_001001433.3(STX16):c.*1746C>T rs886056858 0.00003
NM_001001433.3(STX16):c.*1898A>G rs886056860 0.00003
NM_001001433.3(STX16):c.*2475T>C rs886056864 0.00003
NM_001001433.3(STX16):c.-693G>A rs149351460 0.00003
NM_001001433.3(STX16):c.661G>A (p.Asp221Asn) rs781763936 0.00003
NM_001001433.3(STX16):c.*1312A>T rs757085474 0.00002
NM_001001433.3(STX16):c.*1896G>A rs543577961 0.00002
NM_001001433.3(STX16):c.*2568C>T rs536513007 0.00002
NM_001001433.3(STX16):c.-621G>A rs567647430 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_001001433.3(STX16):c.*1195A>G rs1488875431 0.00001
NM_001001433.3(STX16):c.*1547C>G rs532426531 0.00001
NM_001001433.3(STX16):c.*217G>A rs145140409 0.00001
NM_001001433.3(STX16):c.*2558T>C rs1276361785 0.00001
NM_001001433.3(STX16):c.*2896A>G rs886056868 0.00001
NM_001001433.3(STX16):c.*558T>C rs1192979707 0.00001
NM_001001433.3(STX16):c.-494G>A rs1018502247 0.00001
NM_001001433.3(STX16):c.-707G>A rs886056841 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) rs756954719 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) rs770140447 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) rs1569031518
NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu)
NM_000516.7(GNAS):c.1121G>A (p.Arg374His)
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg)
NM_000516.7(GNAS):c.212+6T>G
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
NM_000516.7(GNAS):c.238G>A (p.Ala80Thr)
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)
NM_000516.7(GNAS):c.257+970_257+972del
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)
NM_000516.7(GNAS):c.411G>A (p.Val137=)
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser)
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.585+12C>T
NM_000516.7(GNAS):c.695G>A (p.Arg232His)
NM_000516.7(GNAS):c.870C>T (p.Phe290=)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_001001433.3(STX16):c.*1156G>C rs1032502684
NM_001001433.3(STX16):c.*1203T>C rs886056856
NM_001001433.3(STX16):c.*1232A>G rs886056857
NM_001001433.3(STX16):c.*1565C>G rs2084170375
NM_001001433.3(STX16):c.*1676T>A rs893623188
NM_001001433.3(STX16):c.*1764C>T rs886056859
NM_001001433.3(STX16):c.*1957T>C rs2084183470
NM_001001433.3(STX16):c.*2312G>A rs886056862
NM_001001433.3(STX16):c.*2377G>T rs559654103
NM_001001433.3(STX16):c.*2555C>G rs2084203495
NM_001001433.3(STX16):c.*2574T>C rs528651545
NM_001001433.3(STX16):c.*2594T>C rs886056867
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*3053C>T rs769976417
NM_001001433.3(STX16):c.*3092A>C rs2084217748
NM_001001433.3(STX16):c.*436G>C rs886056851
NM_001001433.3(STX16):c.-377G>A rs886056845
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.132+6T>A
NM_001001433.3(STX16):c.132G>A (p.Ala44=)
NM_001001433.3(STX16):c.134A>C (p.Glu45Ala)
NM_001001433.3(STX16):c.217C>G (p.Arg73Gly)
NM_001001433.3(STX16):c.223C>T (p.Pro75Ser)
NM_001001433.3(STX16):c.224C>T (p.Pro75Leu)
NM_001001433.3(STX16):c.234G>C (p.Trp78Cys)
NM_001001433.3(STX16):c.260A>G (p.Tyr87Cys)
NM_001001433.3(STX16):c.271C>T (p.Arg91Trp)
NM_001001433.3(STX16):c.274A>G (p.Ile92Val)
NM_001001433.3(STX16):c.286A>G (p.Met96Val)
NM_001001433.3(STX16):c.31TTG[2] (p.Leu13del)
NM_001001433.3(STX16):c.349G>A (p.Glu117Lys)
NM_001001433.3(STX16):c.352G>A (p.Glu118Lys)
NM_001001433.3(STX16):c.386T>A (p.Ile129Asn)
NM_001001433.3(STX16):c.394-14G>T
NM_001001433.3(STX16):c.407G>T (p.Cys136Phe)
NM_001001433.3(STX16):c.412C>T (p.Arg138Cys)
NM_001001433.3(STX16):c.423G>C (p.Gln141His)
NM_001001433.3(STX16):c.434G>A (p.Ser145Asn)
NM_001001433.3(STX16):c.437G>A (p.Arg146Gln)
NM_001001433.3(STX16):c.442C>G (p.Arg148Gly)
NM_001001433.3(STX16):c.445G>T (p.Ala149Ser)
NM_001001433.3(STX16):c.454G>C (p.Glu152Gln)
NM_001001433.3(STX16):c.461A>C (p.Glu154Ala)
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) rs116490884
NM_001001433.3(STX16):c.491C>T (p.Ser164Leu)
NM_001001433.3(STX16):c.492G>T (p.Ser164=)
NM_001001433.3(STX16):c.501G>C (p.Gln167His)
NM_001001433.3(STX16):c.530G>A (p.Arg177Gln)
NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)
NM_001001433.3(STX16):c.559A>G (p.Met187Val)
NM_001001433.3(STX16):c.571_592delinsAA (p.Glu191fs)
NM_001001433.3(STX16):c.575A>G (p.Glu192Gly)
NM_001001433.3(STX16):c.581C>G (p.Ser194Cys)
NM_001001433.3(STX16):c.588T>A (p.His196Gln)
NM_001001433.3(STX16):c.595G>A (p.Asp199Asn)
NM_001001433.3(STX16):c.596A>T (p.Asp199Val)
NM_001001433.3(STX16):c.608C>T (p.Pro203Leu)
NM_001001433.3(STX16):c.615G>T (p.Met205Ile)
NM_001001433.3(STX16):c.628G>A (p.Asp210Asn)
NM_001001433.3(STX16):c.647G>A (p.Arg216Gln)
NM_001001433.3(STX16):c.648+3A>G
NM_001001433.3(STX16):c.648+4C>T
NM_001001433.3(STX16):c.707G>A (p.Arg236Gln)
NM_001001433.3(STX16):c.721C>T (p.Arg241Cys)
NM_001001433.3(STX16):c.752A>G (p.Asn251Ser)
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) rs1031420787
NM_001001433.3(STX16):c.782T>C (p.Ile261Thr)
NM_001001433.3(STX16):c.789dup (p.Gln264fs)
NM_001001433.3(STX16):c.792+18C>T
NM_001001433.3(STX16):c.803T>A (p.Leu268His)
NM_001001433.3(STX16):c.822C>T (p.Asn274=)
NM_001001433.3(STX16):c.823G>A (p.Val275Ile)
NM_001001433.3(STX16):c.839T>G (p.Ile280Ser)
NM_001001433.3(STX16):c.875C>T (p.Ala292Val) rs2084118222
NM_001001433.3(STX16):c.884A>G (p.Tyr295Cys)
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) rs886056847
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848
NM_001001433.3(STX16):c.943C>T (p.Leu315Phe)
NM_001001433.3(STX16):c.949G>T (p.Val317Phe)
NM_001001433.3(STX16):c.958G>A (p.Val320Ile)
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) rs536976542
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) rs2086410482
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr)
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)
NM_080425.4(GNAS):c.910A>G (p.Ile304Val)
NM_198407.2(GHSR):c.925T>A (p.Phe309Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.