ClinVar Miner

List of variants in gene GABBR2 studied for Inborn genetic diseases

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.884C>T (p.Thr295Met) rs200422079 0.00013
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) rs933385444 0.00012
NM_005458.8(GABBR2):c.2635A>G (p.Ile879Val) rs79226810 0.00008
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser) rs1430262254 0.00006
NM_005458.8(GABBR2):c.2618G>A (p.Arg873Gln) rs368856308 0.00005
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp) rs768482972 0.00003
NM_005458.8(GABBR2):c.1910G>A (p.Arg637Gln) rs78208670 0.00003
NM_005458.8(GABBR2):c.400G>A (p.Val134Ile) rs764365066 0.00003
NM_005458.8(GABBR2):c.441A>C (p.Gln147His) rs759633668 0.00003
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00003
NM_005458.8(GABBR2):c.2562A>T (p.Leu854Phe) rs547813684 0.00002
NM_005458.8(GABBR2):c.911G>A (p.Arg304Gln) rs766347577 0.00002
NM_005458.8(GABBR2):c.113G>A (p.Gly38Glu) rs1830934754 0.00001
NM_005458.8(GABBR2):c.1330G>A (p.Ala444Thr) rs566723170 0.00001
NM_005458.8(GABBR2):c.1338C>T (p.Ala446=) rs748550738 0.00001
NM_005458.8(GABBR2):c.1358A>G (p.Asn453Ser) rs376438203 0.00001
NM_005458.8(GABBR2):c.1641G>C (p.Lys547Asn) rs1228267111 0.00001
NM_005458.8(GABBR2):c.1925G>T (p.Arg642Leu) rs781275870 0.00001
NM_005458.8(GABBR2):c.2122G>T (p.Ala708Ser) rs267602049 0.00001
NM_005458.8(GABBR2):c.2777G>A (p.Arg926His) rs901968471 0.00001
NM_005458.8(GABBR2):c.808G>A (p.Glu270Lys) rs377453143 0.00001
NM_005458.8(GABBR2):c.1066G>A (p.Gly356Arg)
NM_005458.8(GABBR2):c.1153A>T (p.Ile385Phe)
NM_005458.8(GABBR2):c.1212C>A (p.Asn404Lys)
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005458.8(GABBR2):c.1723A>G (p.Thr575Ala) rs1831782158
NM_005458.8(GABBR2):c.1881G>C (p.Lys627Asn)
NM_005458.8(GABBR2):c.2011G>A (p.Gly671Ser)
NM_005458.8(GABBR2):c.2146C>G (p.Gln716Glu) rs747261043
NM_005458.8(GABBR2):c.215G>A (p.Ser72Asn) rs1431508126
NM_005458.8(GABBR2):c.2251C>G (p.Pro751Ala)
NM_005458.8(GABBR2):c.2282A>G (p.Gln761Arg) rs1554688978
NM_005458.8(GABBR2):c.2315A>G (p.Lys772Arg)
NM_005458.8(GABBR2):c.2396G>A (p.Arg799Gln) rs1157758873
NM_005458.8(GABBR2):c.2476A>G (p.Ile826Val) rs1014873104
NM_005458.8(GABBR2):c.2561T>G (p.Leu854Ter) rs2491175326
NM_005458.8(GABBR2):c.2625C>G (p.Cys875Trp)
NM_005458.8(GABBR2):c.2662A>C (p.Ile888Leu)
NM_005458.8(GABBR2):c.2734G>A (p.Ala912Thr) rs749468798
NM_005458.8(GABBR2):c.2743G>T (p.Val915Phe) rs1554687394
NM_005458.8(GABBR2):c.589C>T (p.Arg197Cys)
NM_005458.8(GABBR2):c.803A>G (p.Tyr268Cys)
NM_005458.8(GABBR2):c.958G>C (p.Glu320Gln) rs1201096644

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