ClinVar Miner

List of variants in gene B9D2 reported as uncertain significance for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_030578.4(B9D2):c.*153G>C rs886054454
NM_030578.4(B9D2):c.*200T>G rs886054453
NM_030578.4(B9D2):c.*38G>A rs768917784
NM_030578.4(B9D2):c.*68G>A rs886054455
NM_030578.4(B9D2):c.*87C>T rs4987025
NM_030578.4(B9D2):c.-4-13T>C rs199601180
NM_030578.4(B9D2):c.109T>C (p.Ser37Pro) rs886054457
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680
NM_030578.4(B9D2):c.261C>T (p.Gly87=) rs778936312
NM_030578.4(B9D2):c.263G>A (p.Arg88His) rs748803301
NM_030578.4(B9D2):c.469G>C (p.Val157Leu) rs886054456
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583

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