ClinVar Miner

List of variants reported as uncertain significance for bladder exstrophy by Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys) rs146026019 0.00030
NM_003722.5(TP63):c.1530G>T (p.Met510Ile) rs200578530 0.00005
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_005232.5(EPHA1):c.256A>T (p.Ile86Phe)
NM_006618.5(KDM5B):c.4364G>A (p.Arg1455His)
NM_006652.2(SPINT3):c.149C>T (p.Thr50Met)
NM_007271.4(STK38):c.630_631del (p.His210fs)
NM_012217.3(TPSD1):c.282G>C (p.Arg94Ser)
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_032208.3(ANTXR1):c.1331G>A (p.Arg444Gln)

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