ClinVar Miner

List of variants in gene POMT2 reported by PreventionGenetics

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_013382.5(POMT2):c.1007-32G>A rs79509556
NM_013382.5(POMT2):c.1116+35A>G rs2302831
NM_013382.5(POMT2):c.1117-20C>T rs7153929
NM_013382.5(POMT2):c.1183+14A>G rs80099135
NM_013382.5(POMT2):c.1184-47A>C rs2287387
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1332+13C>T rs142916824
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1408C>T (p.Leu470=) rs886038599
NM_013382.5(POMT2):c.1577-8delT rs749856419
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.5(POMT2):c.1653+38G>A rs142649005
NM_013382.5(POMT2):c.1654-41G>C rs71413457
NM_013382.5(POMT2):c.1654-6A>G rs4540995
NM_013382.5(POMT2):c.1786-39C>T rs438931
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.1912C>A (p.Arg638=) rs119463989
NM_013382.5(POMT2):c.2148-18A>G rs138488805
NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.334-45T>C rs66502123
NM_013382.5(POMT2):c.439-45C>T rs146792467
NM_013382.5(POMT2):c.817-18G>A rs200104520

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