ClinVar Miner

List of variants studied for McCune-Albright syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 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.1024C>T (p.Arg342Ter) rs2146300427
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.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
NM_000516.7(GNAS):c.231del (p.Gln78fs)
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.411G>A (p.Val137=)
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser)
NM_000516.7(GNAS):c.432+1G>T rs1555889131
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.433-2A>C
NM_000516.7(GNAS):c.445_446del (p.His149fs)
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.601C>A (p.Arg201Ser) rs11554273
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) rs797045203
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) rs121913494
NM_000516.7(GNAS):c.681G>T (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.695G>A (p.Arg232His)
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.870C>T (p.Phe290=)
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.970+1G>C
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
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.1328C>T (p.Ser443Phe)
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1792C>T (p.Arg598Cys)
NM_080425.4(GNAS):c.2069-6389CGGCG[3] rs143800311
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.788C>T (p.Ala263Val)
NM_080425.4(GNAS):c.910A>G (p.Ile304Val)

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