ClinVar Miner

List of variants studied for Meckel syndrome by Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_017777.4(MKS1):c.1407+66G>A
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_153240.5(NPHP3):c.2917C>T (p.Arg973Ter)
NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)

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