ClinVar Miner

List of variants studied for Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00144
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00136
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00075
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00017
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00014
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001101.5(ACTB):c.-6-15C>G rs375195937
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.219C>G (p.His73Gln) rs1166509821
NM_001101.5(ACTB):c.491C>A (p.Pro164His) rs1784814819
NM_001101.5(ACTB):c.598T>G (p.Phe200Val) rs2128241275
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407

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