ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as likely benign for angioosteohypertrophic syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.*97A>G rs115086172 0.00880
NM_002890.3(RASA1):c.829-12T>A rs187379673 0.00276
NM_002890.3(RASA1):c.1102+10T>C rs150779406 0.00268
NM_002890.3(RASA1):c.2691-11C>T rs149730288 0.00264
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_002890.3(RASA1):c.*476T>G rs543819845 0.00183
NM_002890.3(RASA1):c.*818T>C rs192141756 0.00101
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.*375T>C rs116868431 0.00023
NM_002890.3(RASA1):c.*424G>T rs191725379 0.00010
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533 0.00009
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106 0.00009
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036 0.00005
NM_002890.3(RASA1):c.*543A>G rs183575968 0.00001
NM_002890.3(RASA1):c.*733ATT[1] rs374889193
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568

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