ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 11 by Genome-Nilou Lab

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016363.5(GP6):c.655C>T (p.Pro219Ser) rs1613662 0.83313
NM_016363.5(GP6):c.964A>C (p.Asn322His) rs1671152 0.81180
NM_016363.5(GP6):c.950T>A (p.Leu317Gln) rs1654413 0.80050
NM_016363.5(GP6):c.495T>C (p.Phe165=) rs892089 0.75735
NM_016363.5(GP6):c.*792T>C rs1671150 0.75248
NM_016363.5(GP6):c.*395C>T rs1671151 0.74102
NM_016363.5(GP6):c.*693A>G rs1654412 0.74079
NM_016363.5(GP6):c.745G>A (p.Ala249Thr) rs2304167 0.73790
NM_016363.5(GP6):c.936C>G (p.Leu312=) rs2304166 0.48243
NM_016363.5(GP6):c.484A>C (p.Arg162=) rs892090
NM_016363.5(GP6):c.576A>G (p.Ser192=) rs1654425
NM_016363.5(GP6):c.709G>A (p.Glu237Lys) rs1654416

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