ClinVar Miner

List of variants in gene SPTB reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) rs229593 0.00197
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=) rs115882528 0.00155
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser) rs147059670 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 0.00138
NM_001355436.2(SPTB):c.414T>C (p.Ile138=) rs139699062 0.00130
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.2197G>C (p.Ala733Pro) rs772434433 0.00024
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=) rs149033754 0.00019
NM_001355436.2(SPTB):c.2723A>G (p.Asn908Ser) rs750079421 0.00002
NM_001355436.2(SPTB):c.5124A>G (p.Glu1708=) rs200940814 0.00001
NM_001355436.2(SPTB):c.2136G>A (p.Pro712=)
NM_001355436.2(SPTB):c.2312del (p.Val771fs)
NM_001355436.2(SPTB):c.2500del (p.Val834fs) rs2139592956
NM_001355436.2(SPTB):c.3396G>A (p.Thr1132=)
NM_001355436.2(SPTB):c.3603A>G (p.Glu1201=)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4002G>A (p.Ala1334=)
NM_001355436.2(SPTB):c.4212A>G (p.Ser1404=)
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.4550T>G (p.Met1517Arg)
NM_001355436.2(SPTB):c.4716_4729del (p.Gly1575fs)
NM_001355436.2(SPTB):c.5000_5001insGCCC (p.Val1668fs) rs2082308925
NM_001355436.2(SPTB):c.5455G>A (p.Glu1819Lys)
NM_001355436.2(SPTB):c.5553+4C>T
NM_001355436.2(SPTB):c.566+1G>A rs2082900460
NM_001355436.2(SPTB):c.6015C>G (p.Leu2005=)
NM_001355436.2(SPTB):c.612T>C (p.Asp204=)
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001355436.2(SPTB):c.639C>T (p.His213=)
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600
NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro)
NM_001355436.2(SPTB):c.656T>C (p.Leu219Pro) rs1566772276
NM_001355436.2(SPTB):c.908T>C (p.Met303Thr)

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