ClinVar Miner

List of variants in gene STXBP1 reported as benign for not specified

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_001032221.6(STXBP1):c.663+17C>T rs140247913 0.01395
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001032221.6(STXBP1):c.902+15C>T rs199534789 0.00109
NM_001032221.6(STXBP1):c.1359+15C>T rs374034782 0.00106
NM_001032221.6(STXBP1):c.1702+11G>A rs201977618 0.00092
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001032221.6(STXBP1):c.902+9C>A rs200737004 0.00016
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.1548-15C>A rs772320382 0.00007
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.246+15A>G rs369881520 0.00005
NM_001032221.6(STXBP1):c.1250-19G>A rs370856785 0.00004
NM_001032221.6(STXBP1):c.430-9C>T rs748770943 0.00004
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.1249+9G>A rs372869649
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.38-30CT[7] rs755475986
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=) rs553892771

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