ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 11 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_001083899.2(GP6):c.584G>A (p.Ser195Asn) rs200525940 0.00006
NM_016363.5(GP6):c.142_157del (p.Cys48fs) rs2146873791
NM_016363.5(GP6):c.356_360dup (p.Gly121fs) rs760074158

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