ClinVar Miner

List of variants in gene POMT2 reported as likely benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_013382.5(POMT2):c.1206A>C (p.Pro402=) rs142479943
NM_013382.5(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1485-4A>C rs794727127
NM_013382.5(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.5(POMT2):c.1599G>A (p.Val533=)
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) rs775222771
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.248+9T>C
NM_013382.5(POMT2):c.339G>A (p.Leu113=)
NM_013382.5(POMT2):c.36C>A (p.Ser12=)
NM_013382.5(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.816+8C>T
NM_013382.5(POMT2):c.846T>A (p.Arg282=) rs750579071
NM_013382.5(POMT2):c.84C>T (p.Ala28=) rs771031903
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) rs764015186
NM_013382.5(POMT2):c.936C>T (p.Asp312=)
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355

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