ClinVar Miner

List of variants reported by Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.262+1138G>A rs560870062 0.00470
NM_007217.4(PDCD10):c.96+6786_96+6787del rs577939683 0.00306
NM_031443.4(CCM2):c.30+2639G>A rs181735976 0.00195
NM_031443.4(CCM2):c.288+179G>C rs137874552 0.00184
NM_194454.3(KRIT1):c.-2-308C>T rs567181702 0.00183
NM_031443.4(CCM2):c.31-18122A>T rs182880220 0.00172
NM_007217.4(PDCD10):c.96+4988C>G rs748153515 0.00041
NM_007217.4(PDCD10):c.151-2025A>G rs773691623 0.00031
NM_007217.4(PDCD10):c.-116-2132T>G rs147072468 0.00027
NM_031443.4(CCM2):c.204+2040T>C rs564132631 0.00012
NM_031443.4(CCM2):c.31-14922C>T rs776682467 0.00009
NM_007217.4(PDCD10):c.150+2693T>C rs374384046 0.00007
NM_007217.4(PDCD10):c.96+4389A>G rs541610164 0.00006
NM_007217.4(PDCD10):c.96+865A>C rs779988645 0.00006
NM_007217.4(PDCD10):c.-117+1010C>T rs912904786 0.00005
NM_139119.3(YY1AP1):c.412-1G>A rs199653824 0.00001
NM_007217.4(PDCD10):c.96+5295dup rs890418416
NM_031443.3(CCM2):c.-613A>G rs1554353188
NM_031443.4(CCM2):c.205-11866_205-11863del rs547206569
NM_031443.4(CCM2):c.30+4465C>T rs1554354900
NM_139119.3(YY1AP1):c.583+23T>G rs1558307853
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs) rs1554518386
NM_194454.3(KRIT1):c.729+211T>A rs1344083775
NM_194454.3(KRIT1):c.729+2T>C rs1554528541

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