ClinVar Miner

List of variants reported as likely benign for Hirschsprung disease 3 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 16
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HGVS dbSNP
NM_000514.4(GDNF):c.*1276A>G rs142426358
NM_000514.4(GDNF):c.*1375T>C
NM_000514.4(GDNF):c.*1406G>A rs528922361
NM_000514.4(GDNF):c.*1592G>T rs546517198
NM_000514.4(GDNF):c.*1693G>T rs188617599
NM_000514.4(GDNF):c.*1782G>A
NM_000514.4(GDNF):c.*2014G>A rs530864008
NM_000514.4(GDNF):c.*2150T>G
NM_000514.4(GDNF):c.*2440G>A rs78865769
NM_000514.4(GDNF):c.*5G>A rs145996577
NM_000514.4(GDNF):c.*93A>T rs45535335
NM_000514.4(GDNF):c.*988A>G rs79669773
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003

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