ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys) rs766618779 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.3718T>A (p.Ser1240Thr) rs376594612 0.00006
NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp) rs766723349 0.00006
NM_006946.4(SPTBN2):c.5413C>T (p.Arg1805Cys) rs373877632 0.00006
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys) rs145191943 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203 0.00002
NM_006946.4(SPTBN2):c.5944G>A (p.Glu1982Lys) rs368916464 0.00002
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr) rs148016656 0.00001
NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser) rs746049954 0.00001
NM_006946.4(SPTBN2):c.4433G>A (p.Arg1478Gln) rs761295502 0.00001
NM_006946.4(SPTBN2):c.4702G>A (p.Glu1568Lys) rs769450868 0.00001
NM_006946.4(SPTBN2):c.5505C>T (p.Ala1835=) rs368458475 0.00001
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile) rs373650492 0.00001
NM_006946.4(SPTBN2):c.1015G>A (p.Gly339Arg)
NM_006946.4(SPTBN2):c.1294C>T (p.Arg432Cys)
NM_006946.4(SPTBN2):c.1435G>A (p.Gly479Ser) rs1486743242
NM_006946.4(SPTBN2):c.1580_1581delinsGG (p.Leu527Arg) rs2135466117
NM_006946.4(SPTBN2):c.1949T>C (p.Val650Ala) rs1011637037
NM_006946.4(SPTBN2):c.2480T>C (p.Val827Ala)
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys) rs1565151375
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr) rs766125112
NM_006946.4(SPTBN2):c.2794A>G (p.Thr932Ala)
NM_006946.4(SPTBN2):c.3688G>A (p.Gly1230Arg)
NM_006946.4(SPTBN2):c.3719C>T (p.Ser1240Phe)
NM_006946.4(SPTBN2):c.3939_3950del (p.His1313_Trp1316del) rs1590931758
NM_006946.4(SPTBN2):c.541G>A (p.Ala181Thr)
NM_006946.4(SPTBN2):c.5645T>C (p.Met1882Thr)
NM_006946.4(SPTBN2):c.5993C>T (p.Thr1998Ile)
NM_006946.4(SPTBN2):c.6268GAG[3] (p.Glu2093del) rs752950222
NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)
NM_006946.4(SPTBN2):c.6980T>C (p.Ile2327Thr)

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