ClinVar Miner

List of variants studied for Bernard-Soulier syndrome by Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) rs2151108738
NM_000173.7(GP1BA):c.251_253del (p.Thr84del) rs2151107745
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) rs753768072
NM_000173.7(GP1BA):c.657C>A (p.His219Gln) rs574742436
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) rs953345181

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