ClinVar Miner

List of variants studied for Meckel syndrome by Baylor Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_014875.3(KIF14):c.1147A>G (p.Met383Val) rs371446188 0.00008
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser) rs370591311 0.00008
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser) rs148783076 0.00002
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=) rs761833505 0.00002
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu) rs759119778 0.00001
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln) rs1050543850 0.00001
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) rs1303757034 0.00001
NM_001077418.3(TMEM231):c.771-5_771-2delinsTGTC rs2080606129
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) rs781206278
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg) rs1577406415
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser) rs1226794909
NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs) rs1966500186
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_024809.5(TCTN2):c.1167G>T (p.Trp389Cys) rs1956089092
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153704.6(TMEM67):c.2339T>C (p.Leu780Ser)
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) rs1563673490

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