ClinVar Miner

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

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001376571.1(MADD):c.3818G>A (p.Arg1273His) rs41299179 0.00044
NM_001376571.1(MADD):c.4267C>G (p.Leu1423Val) rs139032053 0.00039
NM_001376571.1(MADD):c.494C>T (p.Ala165Val) rs138776960 0.00028
NM_001376571.1(MADD):c.2564G>A (p.Arg855Gln) rs146550074 0.00016
NM_001376571.1(MADD):c.593G>A (p.Arg198His) rs149316791 0.00012
NM_001376571.1(MADD):c.3722G>C (p.Ser1241Thr) rs147860853 0.00006
NM_001376571.1(MADD):c.2265G>T (p.Gln755His) rs199538960 0.00004
NM_001376571.1(MADD):c.509G>A (p.Arg170His) rs752898668 0.00004
NM_001376571.1(MADD):c.2096G>A (p.Arg699His) rs751993844 0.00002
NM_001376571.1(MADD):c.2739G>T (p.Gln913His) rs555151412 0.00002
NM_001376571.1(MADD):c.1831C>T (p.Arg611Trp) rs374003373 0.00001
NM_001376571.1(MADD):c.2018T>C (p.Ile673Thr) rs148758859 0.00001
NM_001376571.1(MADD):c.2408A>G (p.Asn803Ser) rs752065721 0.00001
NM_001376571.1(MADD):c.2996C>T (p.Pro999Leu) rs371396751 0.00001
NM_001376571.1(MADD):c.94C>A (p.Pro32Thr) rs771163857 0.00001
NM_001376571.1(MADD):c.1039G>C (p.Glu347Gln)
NM_001376571.1(MADD):c.1402A>G (p.Thr468Ala) rs901572589
NM_001376571.1(MADD):c.1441G>A (p.Asp481Asn) rs1288728896
NM_001376571.1(MADD):c.1630A>G (p.Arg544Gly)
NM_001376571.1(MADD):c.2255A>G (p.Asp752Gly)
NM_001376571.1(MADD):c.2309dup (p.Asn770fs) rs767019430
NM_001376571.1(MADD):c.2558T>G (p.Leu853Arg) rs2543568028
NM_001376571.1(MADD):c.269G>A (p.Arg90Gln)
NM_001376571.1(MADD):c.2807G>A (p.Ser936Asn)
NM_001376571.1(MADD):c.2927G>C (p.Arg976Pro) rs765378624
NM_001376571.1(MADD):c.3229C>G (p.Arg1077Gly) rs369513528
NM_001376571.1(MADD):c.3487A>T (p.Ser1163Cys)
NM_001376571.1(MADD):c.4323G>C (p.Gln1441His)
NM_001376571.1(MADD):c.4337A>G (p.His1446Arg) rs766165997
NM_001376571.1(MADD):c.4585G>T (p.Ala1529Ser) rs764757169
NM_001376571.1(MADD):c.4870G>A (p.Val1624Ile)
NM_001376571.1(MADD):c.4930C>G (p.Pro1644Ala) rs371641906
NM_001376571.1(MADD):c.494C>G (p.Ala165Gly) rs138776960
NM_001376571.1(MADD):c.584C>A (p.Thr195Asn)
NM_001376571.1(MADD):c.61A>G (p.Arg21Gly)
NM_001376571.1(MADD):c.68C>G (p.Pro23Arg)
NM_001376571.1(MADD):c.922G>T (p.Ala308Ser)

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