ClinVar Miner

List of variants in gene GRIN2B studied for Complex neurodevelopmental disorder

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
GRCh37/hg19 12p13.1(chr12:13595477-13814290)x1
GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1
NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu) rs1949425904
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly) rs774592932
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro) rs1131691702
NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg) rs1949419811
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) rs1949369220
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1675T>A (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu) rs1555103986
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr) rs1948686092
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) rs1948651947
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter) rs1555102536
NM_000834.5(GRIN2B):c.4244del (p.Ala1414_Ser1415insTer) rs1948569124
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) rs1555133077

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