ClinVar Miner

List of variants studied for bladder exstrophy by Karolinska institutet

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr) rs772935313 0.00003
NM_014045.5(LRP10):c.754G>A (p.Gly252Ser) rs568022752 0.00002
NM_003468.4(FZD5):c.267G>A (p.Met89Ile) rs756316536 0.00001
NM_004626.3(WNT11):c.947G>A (p.Arg316His) rs758816226 0.00001
NM_006522.4(WNT6):c.570G>A (p.Arg190=) rs786205888
NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) rs786205887
NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) rs786205889

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