ClinVar Miner

List of variants in gene DVL1, LOC129929114 studied for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Included ClinVar conditions (181):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367

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