ClinVar Miner

List of variants in gene GRIA3 studied for Inborn genetic diseases

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996 0.01027
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384 0.00091
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) rs145583732 0.00091
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_007325.5(GRIA3):c.2097C>T (p.Tyr699=) rs184185835 0.00041
NM_007325.5(GRIA3):c.390C>T (p.Pro130=) rs142947328 0.00040
NM_007325.5(GRIA3):c.430G>A (p.Ala144Thr) rs1267207491 0.00009
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145 0.00006
NM_007325.5(GRIA3):c.285G>A (p.Ser95=) rs368530347 0.00005
NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg) rs771205448 0.00004
NM_007325.5(GRIA3):c.587T>C (p.Ile196Thr) rs772898802 0.00004
NM_007325.5(GRIA3):c.1158T>C (p.Tyr386=) rs142692007 0.00003
NM_007325.5(GRIA3):c.2T>C (p.Met1Thr) rs752728469 0.00003
NM_007325.5(GRIA3):c.696+5G>A rs748084966 0.00002
NM_007325.5(GRIA3):c.69G>C (p.Leu23Phe) rs759740734 0.00002
NM_007325.5(GRIA3):c.967T>C (p.Tyr323His) rs755997178 0.00002
NM_007325.5(GRIA3):c.40G>A (p.Ala14Thr) rs1443326387 0.00001
NM_007325.5(GRIA3):c.647G>A (p.Arg216Gln) rs753214982 0.00001
NM_007325.5(GRIA3):c.1009G>A (p.Ala337Thr)
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) rs562407134
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) rs2147383715
NM_007325.5(GRIA3):c.1266del (p.Arg423fs)
NM_007325.5(GRIA3):c.1422C>T (p.Ile474=)
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) rs1556317780
NM_007325.5(GRIA3):c.159T>G (p.Phe53Leu) rs145583732
NM_007325.5(GRIA3):c.1755CAA[1] (p.Asn587del) rs2045543461
NM_007325.5(GRIA3):c.1794T>A (p.Asp598Glu)
NM_007325.5(GRIA3):c.1850T>C (p.Met617Thr) rs1569433312
NM_007325.5(GRIA3):c.1878-3T>C
NM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe) rs1556319965
NM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser) rs2045599275
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser) rs988146631
NM_007325.5(GRIA3):c.20T>C (p.Met7Thr)
NM_007325.5(GRIA3):c.2132C>A (p.Pro711Gln)
NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del)
NM_007325.5(GRIA3):c.2219T>C (p.Met740Thr) rs1569441267
NM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser) rs1556334045
NM_007325.5(GRIA3):c.2531T>C (p.Ile844Thr)
NM_007325.5(GRIA3):c.516C>T (p.Ser172=)
NM_007325.5(GRIA3):c.527C>G (p.Ala176Gly)
NM_007325.5(GRIA3):c.770T>C (p.Leu257Pro)
NM_007325.5(GRIA3):c.997C>T (p.Arg333Trp)

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