ClinVar Miner

List of variants in gene GNAS reported as uncertain significance for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
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_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_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.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.149A>C (p.Glu50Ala)
NM_000516.7(GNAS):c.212+6T>G
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.226G>C (p.Asp76His)
NM_000516.7(GNAS):c.257+970_257+972del
NM_000516.7(GNAS):c.258-6C>G
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)
NM_000516.7(GNAS):c.313-3C>G
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr)
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
NM_000516.7(GNAS):c.950G>A (p.Arg317His) rs1369025856
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.992A>T (p.Asp331Val)
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu)
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
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.1681_1682delinsTT (p.Arg561Phe)
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.253T>C (p.Phe85Leu) rs747636634
NM_080425.4(GNAS):c.285C>T (p.Ser95=)
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.890del (p.Gly297fs) rs1391332013

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