ClinVar Miner

List of variants in gene RMND1 reported as uncertain significance by GeneDx

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.795C>G (p.His265Gln) rs150706976 0.00060
NM_017909.4(RMND1):c.320T>A (p.Val107Glu) rs199787718 0.00059
NM_017909.4(RMND1):c.852G>C (p.Arg284Ser) rs139955178 0.00027
NM_017909.4(RMND1):c.260G>A (p.Arg87His) rs142059662 0.00011
NM_017909.4(RMND1):c.1002+3A>C rs974708373 0.00004
NM_017909.4(RMND1):c.1098T>G (p.Ser366Arg) rs190485049 0.00004
NM_017909.4(RMND1):c.188A>G (p.Asn63Ser) rs374223733 0.00003
NM_017909.4(RMND1):c.661G>C (p.Gly221Arg) rs1275538949 0.00003
NM_017909.4(RMND1):c.830+3A>G rs772128189 0.00002
NM_017909.4(RMND1):c.289A>G (p.Thr97Ala) rs1288205053 0.00001
NM_017909.4(RMND1):c.493T>C (p.Ser165Pro) rs1343466627 0.00001
NM_017909.4(RMND1):c.702T>A (p.Ala234=) rs371485156 0.00001
NM_017909.4(RMND1):c.1003-2_1003-1insATG rs760560618
NM_017909.4(RMND1):c.381C>G (p.Phe127Leu)
NM_017909.4(RMND1):c.42T>A (p.His14Gln)
NM_017909.4(RMND1):c.434_436del (p.Lys145del) rs774919323
NM_017909.4(RMND1):c.439C>T (p.Pro147Ser) rs759822198
NM_017909.4(RMND1):c.59A>G (p.His20Arg)
NM_017909.4(RMND1):c.674C>T (p.Thr225Ile)
NM_017909.4(RMND1):c.729+1_729+2del rs1382069196
NM_017909.4(RMND1):c.76G>A (p.Gly26Ser)
NM_017909.4(RMND1):c.77G>T (p.Gly26Val) rs1780936820
NM_017909.4(RMND1):c.899T>C (p.Leu300Pro) rs1554344088

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