ClinVar Miner

List of variants in gene B3GALT6 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00425
NC_000001.11:g.1232071G>A rs552245558 0.00359
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00100
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00058
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00043
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520 0.00033
NM_080605.4(B3GALT6):c.-23G>A rs867887048 0.00021
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=) rs370430307 0.00012
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser) rs933320998 0.00006
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00005
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00005
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=) rs963500907 0.00003
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) rs778444849 0.00003
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906 0.00002
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 0.00002
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) rs886138913 0.00002
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys) rs771306094 0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=) rs1200418637 0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_080605.4(B3GALT6):c.-5G>A rs1265833674 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val) rs1455509557 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=) rs767598361 0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=) rs750669776 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) rs748952705 0.00001
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033 0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) rs760685441 0.00001
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys) rs397514717 0.00001
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe) rs1381077083 0.00001
NM_080605.4(B3GALT6):c.825C>T (p.Tyr275=) rs769833251 0.00001
NM_080605.4(B3GALT6):c.-38G>A rs1386625448
NM_080605.4(B3GALT6):c.113A>G (p.Asp38Gly) rs1011531766
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu) rs1322812318
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.159_164del (p.Arg54_Ala55del)
NM_080605.4(B3GALT6):c.165C>T (p.Ala55=) rs1278117182
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.239G>A (p.Trp80Ter) rs1553151208
NM_080605.4(B3GALT6):c.25CGG[4] (p.Arg11_Ala12insArg)
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr) rs969701761
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.352G>A (p.Asp118Asn)
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.425G>A (p.Trp142Ter)
NM_080605.4(B3GALT6):c.43G>A (p.Gly15Ser) rs1638531081
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.54G>C (p.Thr18=) rs1553151162
NM_080605.4(B3GALT6):c.566G>T (p.Arg189Leu)
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.606del (p.Trp203fs) rs2100994237
NM_080605.4(B3GALT6):c.651C>G (p.Gly217=) rs764901184
NM_080605.4(B3GALT6):c.661_662dup (p.Ala222fs) rs2100994350
NM_080605.4(B3GALT6):c.818A>T (p.Asn273Ile) rs759357299
NM_080605.4(B3GALT6):c.839A>C (p.Lys280Thr) rs1638569824
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_080605.4(B3GALT6):c.931G>C (p.Val311Leu) rs769559586
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237

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