ClinVar Miner

List of variants in gene DMXL2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001378457.1(DMXL2):c.5976T>A (p.Asp1992Glu) rs148062616 0.00932
NM_001378457.1(DMXL2):c.3935T>C (p.Val1312Ala) rs142580160 0.00406
NM_001378457.1(DMXL2):c.5136T>G (p.Ala1712=) rs35347764 0.00369
NM_001378457.1(DMXL2):c.368A>G (p.Asn123Ser) rs151034852 0.00344
NM_001378457.1(DMXL2):c.7542A>G (p.Thr2514=) rs139788071 0.00232
NM_001378457.1(DMXL2):c.2055A>C (p.Ser685=) rs141558477 0.00202
NM_001378457.1(DMXL2):c.6561A>G (p.Gln2187=) rs73399548 0.00200
NM_001378457.1(DMXL2):c.6046G>A (p.Asp2016Asn) rs146972389 0.00163
NM_001378457.1(DMXL2):c.4187C>T (p.Ser1396Phe) rs143033674 0.00157
NM_001378457.1(DMXL2):c.6965-7C>T rs73399542 0.00063
NM_001378457.1(DMXL2):c.2096T>C (p.Ile699Thr) rs117017152 0.00040
NM_001378457.1(DMXL2):c.6438G>A (p.Ser2146=) rs139670739 0.00040
NM_001378457.1(DMXL2):c.6930C>T (p.His2310=) rs138901067 0.00038
NM_001378457.1(DMXL2):c.3949A>G (p.Ile1317Val) rs148766950 0.00037
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn) rs149014761 0.00031
NM_001378457.1(DMXL2):c.3567G>A (p.Ala1189=) rs201138302 0.00026
NM_001378457.1(DMXL2):c.861C>T (p.Thr287=) rs146664990 0.00024
NM_001378457.1(DMXL2):c.9096C>T (p.Ser3032=) rs150017189 0.00023
NM_001378457.1(DMXL2):c.6497G>A (p.Gly2166Glu) rs149842282 0.00021
NM_001378457.1(DMXL2):c.7360G>A (p.Glu2454Lys) rs145710046 0.00020
NM_001378457.1(DMXL2):c.1114A>C (p.Asn372His) rs143811213 0.00018
NM_001378457.1(DMXL2):c.231T>C (p.Gly77=) rs142324215 0.00017
NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu) rs747567052 0.00016
NM_001378457.1(DMXL2):c.5974G>A (p.Asp1992Asn) rs144241909 0.00014
NM_001378457.1(DMXL2):c.2508C>T (p.Leu836=) rs145547072 0.00011
NM_001378457.1(DMXL2):c.1290T>G (p.Asp430Glu) rs775660410 0.00010
NM_001378457.1(DMXL2):c.7990G>C (p.Val2664Leu) rs745532251 0.00007
NM_001378457.1(DMXL2):c.3104C>G (p.Pro1035Arg) rs372199887 0.00004
NM_001378457.1(DMXL2):c.2041T>G (p.Cys681Gly) rs201747716 0.00001
NM_001378457.1(DMXL2):c.4437G>A (p.Thr1479=) rs183800427 0.00001
NM_001378457.1(DMXL2):c.5286T>G (p.Phe1762Leu) rs974469060 0.00001
NM_001378457.1(DMXL2):c.1346-8T>C rs2140887548
NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys) rs143850714
NM_001378457.1(DMXL2):c.199A>G (p.Asn67Asp)
NM_001378457.1(DMXL2):c.2004C>T (p.Ser668=)
NM_001378457.1(DMXL2):c.2186G>A (p.Arg729His)
NM_001378457.1(DMXL2):c.2313A>G (p.Leu771=)
NM_001378457.1(DMXL2):c.23C>G (p.Thr8Ser) rs75378828
NM_001378457.1(DMXL2):c.2443A>T (p.Ile815Phe)
NM_001378457.1(DMXL2):c.2502T>G (p.Ile834Met)
NM_001378457.1(DMXL2):c.261C>T (p.Gly87=)
NM_001378457.1(DMXL2):c.291C>T (p.Leu97=)
NM_001378457.1(DMXL2):c.2982G>A (p.Thr994=)
NM_001378457.1(DMXL2):c.3420C>T (p.Ser1140=) rs368031898
NM_001378457.1(DMXL2):c.3423C>T (p.Val1141=)
NM_001378457.1(DMXL2):c.3774G>C (p.Gly1258=)
NM_001378457.1(DMXL2):c.3778T>C (p.Leu1260=)
NM_001378457.1(DMXL2):c.3900C>A (p.Thr1300=)
NM_001378457.1(DMXL2):c.402G>A (p.Leu134=)
NM_001378457.1(DMXL2):c.4244A>G (p.Asp1415Gly)
NM_001378457.1(DMXL2):c.4245T>C (p.Asp1415=)
NM_001378457.1(DMXL2):c.4316A>G (p.Gln1439Arg)
NM_001378457.1(DMXL2):c.4427A>G (p.Asp1476Gly)
NM_001378457.1(DMXL2):c.4731A>G (p.Thr1577=)
NM_001378457.1(DMXL2):c.4762C>T (p.Arg1588Ter)
NM_001378457.1(DMXL2):c.5591C>A (p.Thr1864Asn)
NM_001378457.1(DMXL2):c.6187G>A (p.Glu2063Lys)
NM_001378457.1(DMXL2):c.6195T>C (p.Asp2065=)
NM_001378457.1(DMXL2):c.6273A>T (p.Glu2091Asp) rs1284143090
NM_001378457.1(DMXL2):c.6931G>A (p.Ala2311Thr)
NM_001378457.1(DMXL2):c.7020A>G (p.Lys2340=)
NM_001378457.1(DMXL2):c.7484C>G (p.Thr2495Arg) rs1356800244
NM_001378457.1(DMXL2):c.788G>A (p.Gly263Asp)
NM_001378457.1(DMXL2):c.7994A>G (p.Glu2665Gly)
NM_001378457.1(DMXL2):c.8373G>A (p.Met2791Ile) rs2141210690
NM_001378457.1(DMXL2):c.860C>A (p.Thr287Asn)
NM_001378457.1(DMXL2):c.8701G>A (p.Val2901Ile)
NM_001378457.1(DMXL2):c.88-10_88-3dup rs3078066
NM_001378457.1(DMXL2):c.88-12_88-3dup rs3078066
NM_001378457.1(DMXL2):c.88-13_88-3dup rs3078066
NM_001378457.1(DMXL2):c.88-18_88-3dup rs3078066
NM_001378457.1(DMXL2):c.88-19_88-3dup rs3078066
NM_001378457.1(DMXL2):c.88-20_88-3dup rs3078066

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