ClinVar Miner

List of variants reported as pathogenic for obsolete bleeding diathesis due to a collagen receptor defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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
NM_016363.5(GP6):c.708_711del (p.Asn236fs) rs754929349

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