ClinVar Miner

List of variants reported as not provided for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (181):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His) rs373884838 0.00006
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763

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