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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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