ClinVar Miner

List of variants studied for neurodevelopmental disorder with cerebellar hypoplasia and spasticity by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017864.4(INTS8):c.2130T>C (p.Ser710=) rs713113 0.51528
NM_017864.4(INTS8):c.1018-11G>A rs11996455 0.45771
NM_017864.4(INTS8):c.2694C>T (p.Ala898=) rs1129152 0.38558

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