ClinVar Miner

List of variants in gene TMEM231 reported as likely pathogenic for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NM_001077418.3(TMEM231):c.310-2A>G rs2151703192
NM_001077418.3(TMEM231):c.439-33_538del

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