ClinVar Miner

List of variants studied for RAB23-related Carpenter syndrome by Natera, Inc.

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 0.00013
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00006
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487

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