ClinVar Miner

List of variants studied for Meckel syndrome, type 2 by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021

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