ClinVar Miner

List of variants reported as not provided for blood platelet disease by GenomeConnect, ClinGen

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys) rs1383986403 0.00001
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp) rs1436597250

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