ClinVar Miner

List of variants in gene GDNF studied for Hirschsprung Disease, Dominant

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000514.4(GDNF):c.*128_*133del rs886060603
NM_000514.4(GDNF):c.*131GGA[10] rs150577324
NM_000514.4(GDNF):c.*2067del rs886060589
NM_000514.4(GDNF):c.*2829_*2830del rs141939066
NM_000514.4(GDNF):c.-227CGG[6] rs554953764

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