ClinVar Miner

List of variants reported as pathogenic for Meckel syndrome, type 11

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000016.9:g.(?_75573872)_(75579413_?)del
NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile) rs397514753
NM_001077416.2(TMEM231):c.974A>C (p.Gln325Pro) rs397514754
NM_001077418.3(TMEM231):c.139+47C>A
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025

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