ClinVar Miner

List of variants reported as not provided for chromosomal disorder by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (195):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_001378414.1(HDAC4):c.602A>G (p.Tyr201Cys)
NM_024426.6(WT1):c.670A>T (p.Thr224Ser) rs1554945246

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