ClinVar Miner

List of variants studied for partial deletion of the short arm of chromosome 16 by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p11.2(chr16:28349949-29342589)
GRCh37/hg19 16p11.2(chr16:28689085-29051191)
GRCh37/hg19 16p11.2(chr16:29567295-30178406)
GRCh37/hg19 16p11.2(chr16:29580020-30177916)
GRCh37/hg19 16p11.2(chr16:29580020-30177999)
GRCh37/hg19 16p12.2(chr16:21801889-22431357)
GRCh37/hg19 16p12.2(chr16:21801889-22710614)
GRCh37/hg19 16p13.11(chr16:14897625-16494783)
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg) rs1589239722

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