ClinVar Miner

List of variants in gene CHRNB2 studied for Inborn genetic diseases

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00133
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486 0.00058
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692 0.00054
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259 0.00039
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986 0.00024
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952 0.00024
NM_000748.3(CHRNB2):c.483C>T (p.His161=) rs190967991 0.00016
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys) rs199928622 0.00009
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) rs140739605 0.00007
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705 0.00006
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) rs144508607 0.00006
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378 0.00005
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) rs369234693 0.00005
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser) rs1421654764 0.00004
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His) rs770156397 0.00004
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) rs773706734 0.00004
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) rs141689121 0.00003
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu) rs1303546196 0.00003
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833 0.00003
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 0.00002
NM_000748.3(CHRNB2):c.1119T>C (p.Ala373=) rs1358610972 0.00001
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) rs199658508 0.00001
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) rs199743038 0.00001
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=) rs1057524461 0.00001
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) rs1049048240 0.00001
NM_000748.3(CHRNB2):c.1329T>C (p.Asp443=) rs1451511201 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=) rs773226966 0.00001
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile) rs762363770 0.00001
NM_000748.3(CHRNB2):c.222G>C (p.Glu74Asp) rs368583539 0.00001
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=) rs202243284 0.00001
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser) rs200796605 0.00001
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) rs370886747 0.00001
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
NM_000748.3(CHRNB2):c.1068C>A (p.Cys356Ter) rs762237464
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu) rs770055798
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=) rs560427247
NM_000748.3(CHRNB2):c.1177C>T (p.Arg393Cys)
NM_000748.3(CHRNB2):c.1208T>G (p.Phe403Cys)
NM_000748.3(CHRNB2):c.1280C>T (p.Ala427Val)
NM_000748.3(CHRNB2):c.1288G>A (p.Gly430Ser)
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys) rs202079239
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro) rs1696261435
NM_000748.3(CHRNB2):c.1424T>C (p.Ile475Thr)
NM_000748.3(CHRNB2):c.304A>T (p.Met102Leu)
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys) rs760458701
NM_000748.3(CHRNB2):c.534C>A (p.Tyr178Ter)
NM_000748.3(CHRNB2):c.535G>C (p.Asp179His)
NM_000748.3(CHRNB2):c.61T>C (p.Ser21Pro)
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
NM_000748.3(CHRNB2):c.739C>T (p.Leu247Phe)
NM_000748.3(CHRNB2):c.946G>A (p.Val316Met)
NM_000748.3(CHRNB2):c.951C>T (p.Cys317=)

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