ClinVar Miner

List of variants studied for Meckel syndrome, type 10

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_030578.4(B9D2):c.214+25T>G rs11668109 0.66244
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_030578.4(B9D2):c.-4-40C>G rs2241713 0.59207
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_030578.4(B9D2):c.496C>T (p.Arg166Cys) rs749611100 0.00004
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00002
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) rs1487082103 0.00001
NM_030578.4(B9D2):c.-4-60_-4-59insT rs3217387
NM_030578.4(B9D2):c.15C>A (p.His5Gln) rs1388769907
NM_030578.4(B9D2):c.168C>G (p.Tyr56Ter) rs1568484575
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
NM_030578.4(B9D2):c.496C>G (p.Arg166Gly)

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