ClinVar Miner

List of variants studied for congenital hydrocephalus by Mendelics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947 0.99995
NM_001378778.1(MPDZ):c.2344G>A (p.Gly782Arg) rs192227753 0.00302
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433

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