ClinVar Miner

List of variants studied for neurocristopathy by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser) rs121908163 0.00006
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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