ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.2075T>C (p.Leu692Ser) rs1361876642 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.1090G>A (p.Glu364Lys) rs772255938 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.1510T>G (p.Cys504Gly) rs763308182
NM_013382.7(POMT2):c.1721A>T (p.Tyr574Phe) rs142870987
NM_013382.7(POMT2):c.1763G>A (p.Arg588Gln)
NM_013382.7(POMT2):c.1849G>A (p.Val617Ile)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.222C>G (p.His74Gln) rs1474905955
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.305T>C (p.Phe102Ser)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)

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