ClinVar Miner

List of variants reported as uncertain significance for Cushing syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg) rs200951744 0.00163
NM_001105247.2(ARMC5):c.1864+198T>A rs150981686 0.00120
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00035
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu) rs140388147 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_000516.7(GNAS):c.585+12C>T rs1569027992 0.00003
NM_001105247.2(ARMC5):c.2403G>T (p.Trp801Cys) rs372245661 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys) rs539440145 0.00002
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp) rs587777662 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.41A>G (p.Asn14Ser) rs752140999 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His) rs752232472 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn) rs752141160 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.1058G>A (p.Gly353Glu)
NM_000516.7(GNAS):c.1121G>A (p.Arg374His) rs2146306197
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg)
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg) rs1216764349
NM_000516.7(GNAS):c.411G>A (p.Val137=)
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn) rs2517140547
NM_000516.7(GNAS):c.695G>A (p.Arg232His) rs2146279167
NM_000516.7(GNAS):c.870C>T (p.Phe290=)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_001105247.2(ARMC5):c.1998-6C>T
NM_001105247.2(ARMC5):c.2548G>T (p.Glu850Ter) rs2544864123
NM_001105247.2(ARMC5):c.583G>C (p.Gly195Arg) rs2544854840
NM_001288767.2(ARMC5):c.140C>T (p.Ala47Val)
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) rs1448481528
NM_080425.4(GNAS):c.1848C>T (p.Phe616=)
NM_080425.4(GNAS):c.1851G>A (p.Gly617=)
NM_080425.4(GNAS):c.334G>C (p.Gly112Arg)
NM_080425.4(GNAS):c.568G>C (p.Gly190Arg)
NM_080425.4(GNAS):c.910A>G (p.Ile304Val)

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