ClinVar Miner

List of variants studied for neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.1399C>T (p.Leu467=) rs149331610
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)

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