ClinVar Miner

List of variants in gene SAMD9 studied for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His) rs142611434 0.00090
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00031
NM_017654.4(SAMD9):c.4658T>C (p.Ile1553Thr) rs146732631 0.00010
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His) rs149966534 0.00008
NM_017654.4(SAMD9):c.2210A>G (p.His737Arg) rs749002104 0.00007
NM_017654.4(SAMD9):c.2254T>A (p.Trp752Arg) rs148339415 0.00007
NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg) rs755857667 0.00005
NM_017654.4(SAMD9):c.2071T>C (p.Trp691Arg) rs756922616 0.00004
NM_017654.4(SAMD9):c.316C>T (p.Arg106Cys) rs770339001 0.00004
NM_017654.4(SAMD9):c.194T>C (p.Ile65Thr) rs530019742 0.00003
NM_017654.4(SAMD9):c.868G>C (p.Val290Leu) rs139583166 0.00003
NM_017654.4(SAMD9):c.2063A>G (p.Lys688Arg) rs1188656521 0.00002
NM_017654.4(SAMD9):c.209T>A (p.Leu70Gln) rs550190460 0.00002
NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) rs371510515 0.00002
NM_017654.4(SAMD9):c.3704G>T (p.Ser1235Ile) rs1037288683 0.00002
NM_017654.4(SAMD9):c.1064A>G (p.Asn355Ser) rs759486201 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017654.4(SAMD9):c.3192T>G (p.Asn1064Lys) rs373641119 0.00001
NM_017654.4(SAMD9):c.3734A>G (p.Glu1245Gly) rs765379128 0.00001
NM_017654.4(SAMD9):c.457A>G (p.Arg153Gly) rs368510205 0.00001
NM_017654.4(SAMD9):c.1053C>A (p.Asp351Glu)
NM_017654.4(SAMD9):c.1112A>T (p.Glu371Val)
NM_017654.4(SAMD9):c.1228T>G (p.Tyr410Asp)
NM_017654.4(SAMD9):c.1304A>G (p.Lys435Arg)
NM_017654.4(SAMD9):c.1498C>T (p.Leu500Phe)
NM_017654.4(SAMD9):c.1583T>C (p.Leu528Pro)
NM_017654.4(SAMD9):c.1972A>G (p.Asn658Asp) rs1791587535
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln) rs1064795431
NM_017654.4(SAMD9):c.2141T>C (p.Leu714Pro)
NM_017654.4(SAMD9):c.2153T>C (p.Ile718Thr)
NM_017654.4(SAMD9):c.2347T>C (p.Tyr783His)
NM_017654.4(SAMD9):c.2371T>C (p.Tyr791His)
NM_017654.4(SAMD9):c.2771T>C (p.Leu924Pro)
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) rs1554336981
NM_017654.4(SAMD9):c.3024G>A (p.Met1008Ile)
NM_017654.4(SAMD9):c.302T>G (p.Val101Gly)
NM_017654.4(SAMD9):c.3356T>C (p.Ile1119Thr)
NM_017654.4(SAMD9):c.3361G>T (p.Asp1121Tyr)
NM_017654.4(SAMD9):c.3602T>G (p.Ile1201Arg)
NM_017654.4(SAMD9):c.4265T>C (p.Ile1422Thr)
NM_017654.4(SAMD9):c.4411A>G (p.Met1471Val)
NM_017654.4(SAMD9):c.4460A>G (p.Lys1487Arg)
NM_017654.4(SAMD9):c.44C>T (p.Thr15Ile)
NM_017654.4(SAMD9):c.4663C>T (p.Pro1555Ser) rs1554336742
NM_017654.4(SAMD9):c.847T>C (p.Cys283Arg)
NM_017654.4(SAMD9):c.88C>T (p.Gln30Ter) rs1482171921
NM_017654.4(SAMD9):c.97A>G (p.Arg33Gly)

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