ClinVar Miner

List of variants studied for Simpson-Golabi-Behmel syndrome

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05751
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu) rs375606908 0.00011
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile) rs139206747 0.00010
NM_004484.4(GPC3):c.516C>T (p.Asp172=) rs369607601 0.00010
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_004484.4(GPC3):c.648G>C (p.Met216Ile) rs752516966 0.00004
NM_004484.4(GPC3):c.972T>C (p.Phe324=) rs183678432 0.00004
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys) rs757475450 0.00002
NM_004484.4(GPC3):c.175+12T>G rs765877667 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys) rs757269723 0.00001
NM_004484.4(GPC3):c.1167-1G>A rs2071074944 0.00001
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro) rs1238291553 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_004484.4(GPC3):c.1292+6C>T rs1207247416 0.00001
NM_004484.4(GPC3):c.1296C>T (p.Tyr432=) rs946461494 0.00001
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544 0.00001
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) rs201310379 0.00001
NM_004484.4(GPC3):c.450A>G (p.Thr150=) rs1569426383 0.00001
NM_004484.4(GPC3):c.696T>C (p.Ala232=) rs2071695506 0.00001
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
NM_004484.4(GPC3):c.865G>A (p.Val289Met) rs1456458902 0.00001
NM_004484.4(GPC3):c.918T>C (p.Leu306=) rs753655328 0.00001
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq26.2(chrX:132703748-132794615)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
GRCh38/hg38 Xq26.2(chrX:133658037-133915611)
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
NM_001448.3(GPC4):c.320-15del rs57898529
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003611.3(OFD1):c.1412-322G>A rs2047747647
NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del) rs771984968
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2638G>T (p.Glu880Ter)
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.368T>C (p.Leu123Pro)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.802_820del (p.Leu268fs) rs2146970113
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.4(GPC3):c.-1G>C rs2076564315
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr) rs2071153064
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.4(GPC3):c.1292+1G>T rs869025182
NM_004484.4(GPC3):c.1293-10A>G
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu) rs2076562505
NM_004484.4(GPC3):c.1413+1G>C rs2124401754
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala) rs2069918325
NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter) rs753210097
NM_004484.4(GPC3):c.1562G>A (p.Arg521His) rs2069915768
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser) rs2069289549
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val) rs2124257541
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.1692del (p.Leu565fs) rs886039908
NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)
NM_004484.4(GPC3):c.175+1G>T rs886039489
NM_004484.4(GPC3):c.190del (p.Val64fs)
NM_004484.4(GPC3):c.194_206del (p.Cys65fs) rs869025181
NM_004484.4(GPC3):c.271del (p.Gln91fs) rs2124634791
NM_004484.4(GPC3):c.280del (p.Gln94fs)
NM_004484.4(GPC3):c.337+1G>A rs869025183
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5dup rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn) rs2124480768
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter) rs2071700502
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp) rs1206002281
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg) rs104894854
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys) rs903266102
NM_004484.4(GPC3):c.974C>A (p.Ser325Ter) rs1569426054
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)

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