ClinVar Miner

List of variants reported as pathogenic for See cases by ISCA site 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3
GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1
GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3
GRCh38/hg38 4q34.1(chr4:173734069-173820899)x3
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1
GRCh38/hg38 4q35.2(chr4:189792437-190018234)x1
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1
GRCh38/hg38 8p12(chr8:35500597-36370018)x1
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1
NCBI36/hg18 15p12-q13.1(chr15:6207329-26103882)x1
NCBI36/hg18 Yq11.21-11.23(chrY:13031202-26716642)

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