ClinVar Miner

List of variants studied for bladder exstrophy

Included ClinVar conditions (2):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_002202.3(ISL1):c.479-4G>A rs2303750 0.00422
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His) rs201004738 0.00043
NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys) rs146026019 0.00030
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_003722.5(TP63):c.1530G>T (p.Met510Ile) rs200578530 0.00005
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_006767.4(LZTR1):c.1146G>A (p.Ser382=) rs751444145 0.00001
46;XY;t(8;9)(p11.2;q13)dn
NM_000369.5(TSHR):c.263C>T (p.Thr88Ile)
NM_001004749.2(OR51A7):c.64C>T (p.His22Tyr)
NM_001008536.2(TCHHL1):c.1529T>C (p.Val510Ala)
NM_001195637.2(CCDC179):c.25G>C (p.Glu9Gln)
NM_001306080.2(LMO7):c.1883G>C (p.Arg628Thr)
NM_001371589.1(WIZ):c.4637A>G (p.Gln1546Arg)
NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)
NM_001407.3(CELSR3):c.5875G>A (p.Ala1959Thr)
NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln)
NM_002202.3(ISL1):c.137C>G (p.Ala46Gly) rs755382547
NM_004626.3(WNT11):c.198G>A (p.Met66Ile)
NM_005232.5(EPHA1):c.256A>T (p.Ile86Phe)
NM_006522.4(WNT6):c.570G>A (p.Arg190=) rs786205888
NM_006618.5(KDM5B):c.4364G>A (p.Arg1455His)
NM_006652.2(SPINT3):c.149C>T (p.Thr50Met)
NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe) rs760064852
NM_007271.4(STK38):c.630_631del (p.His210fs)
NM_012217.3(TPSD1):c.282G>C (p.Arg94Ser)
NM_014482.3(BMP10):c.599C>G (p.Thr200Ser)
NM_016277.5(RAB23):c.17T>G (p.Met6Arg)
NM_018419.3(SOX18):c.766C>T (p.Arg256Trp)
NM_023014.1(PRAMEF2):c.1195C>T (p.Arg399Cys)
NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) rs786205887
NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) rs786205889
NM_032208.3(ANTXR1):c.1331G>A (p.Arg444Gln)

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