ClinVar Miner

List of variants in gene TMEM216 reported as benign for Meckel syndrome, type 2

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3:c.432-11_432-10insA

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