ClinVar Miner

List of variants studied for Pseudohypoparathyroidism type 1B

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.57241
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_001001433.3(STX16):c.*183G>T rs1052642 0.10193
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_001001433.3(STX16):c.-350C>A rs41296205 0.04872
NM_001001433.2(STX16):c.-744T>C rs6026428 0.03703
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950 0.03442
NM_001001433.3(STX16):c.*1581G>C rs73302110 0.03418
NM_001001433.3(STX16):c.*2060T>C rs115404291 0.02300
NM_001001433.3(STX16):c.*70G>A rs114597931 0.02300
NM_001001433.3(STX16):c.*1997A>G rs78816069 0.01884
NM_001001433.3(STX16):c.*2080G>A rs111631847 0.01513
NM_001001433.3(STX16):c.*1899C>T rs138678203 0.01465
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310 0.01336
NM_001001433.3(STX16):c.*2543G>C rs75424783 0.00934
NM_001001433.3(STX16):c.*1863C>A rs141875151 0.00929
NM_001001433.3(STX16):c.557-7G>C rs41276952 0.00533
NM_001001433.3(STX16):c.-464G>A rs41296203 0.00433
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00377
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00235
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00192
NM_001001433.3(STX16):c.*2293G>A rs185815575 0.00172
NM_001001433.3(STX16):c.*2885C>T rs188362833 0.00170
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
NM_001001433.3(STX16):c.-534C>G rs190719996 0.00124
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_001001433.3(STX16):c.-63T>C rs181473720 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_001001433.3(STX16):c.*1886T>C rs150647186 0.00070
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.585G>A (p.Gln195=) rs147137636 0.00045
NM_001001433.3(STX16):c.594C>T (p.Phe198=) rs146333716 0.00037
NM_001001433.3(STX16):c.-550G>A rs148071494 0.00032
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp) rs141068956 0.00029
NM_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_001001433.3(STX16):c.*2137C>T rs886056861 0.00022
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_001001433.3(STX16):c.360T>C (p.His120=) rs148962992 0.00018
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00015
NM_001001433.3(STX16):c.394-7C>T rs533111939 0.00015
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
NM_001001433.3(STX16):c.751A>C (p.Asn251His) rs754524705 0.00013
NM_001001433.3(STX16):c.*2475T>C rs886056864 0.00011
NM_001001433.3(STX16):c.*2152G>A rs1027698811 0.00010
NM_001001433.3(STX16):c.*2095C>T rs577869699 0.00009
NM_001001433.3(STX16):c.*648A>C rs980469101 0.00009
NM_001001433.3(STX16):c.*952C>A rs886056854 0.00009
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) rs202102691 0.00009
NM_001001433.3(STX16):c.*2016G>T rs779563360 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
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.-25A>C rs368579447 0.00006
NM_001001433.3(STX16):c.776C>T (p.Ala259Val) rs371863588 0.00006
NM_001001433.3(STX16):c.*1160G>A rs886056855 0.00005
NM_001001433.3(STX16):c.*17G>A rs766728803 0.00005
NM_001001433.3(STX16):c.*2276G>C rs886086537 0.00005
NM_001001433.3(STX16):c.-421C>G rs557592494 0.00005
NM_001001433.3(STX16):c.648+4C>T rs370006614 0.00005
NM_001001433.3(STX16):c.782T>C (p.Ile261Thr) rs151312981 0.00005
NM_001001433.3(STX16):c.823G>A (p.Val275Ile) rs749300349 0.00005
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.707G>A (p.Arg236Gln) rs115536505 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.*2574T>C rs528651545 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.-377G>A rs886056845 0.00002
NM_001001433.3(STX16):c.-621G>A rs567647430 0.00002
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr) rs906678943 0.00002
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 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.*539G>A rs571571425 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.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) rs756954719 0.00001
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) rs1031420787 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848 0.00001
NM_001001433.3(STX16):c.958G>A (p.Val320Ile) rs775032938 0.00001
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) rs770140447 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
GNAS, 4.7-KB DEL
GRCh37/hg19 20q13.32(chr20:57244540-57246216)
NG_016194.2:g.[6012_6117gom;19440_19569lom]
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) rs1569031518
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.139+1G>C rs2089393181
NM_000516.7(GNAS):c.212+6T>G rs2516903446
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.238G>A (p.Ala80Thr)
NM_000516.7(GNAS):c.257+970_257+972del rs1174800950
NM_000516.7(GNAS):c.296del (p.Leu99fs) rs2090829910
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
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.*1747G>C rs140662326
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.*2594T>C rs886056867
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*2962C>T rs192204838
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.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
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.145-2060_556+343del
NM_001001433.3(STX16):c.1A>G (p.Met1Val)
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) rs921011114
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.393+557_792+364del
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.540G>A (p.Gln180=) rs2296524
NM_001001433.3(STX16):c.557G>T (p.Arg186Leu) rs2516022199
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.721C>T (p.Arg241Cys)
NM_001001433.3(STX16):c.752A>G (p.Asn251Ser)
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.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.943C>T (p.Leu315Phe)
NM_001001433.3(STX16):c.949G>T (p.Val317Phe)
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) rs536976542
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer) rs2516370196
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.