ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as likely benign for Capillary malformation-arteriovenous malformation 1

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.*97A>G rs115086172 0.00880
NM_002890.3(RASA1):c.2691-11C>T rs149730288 0.00264
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.*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.*16T>C rs770822619 0.00004
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu) rs145354256 0.00003
NM_002890.3(RASA1):c.*543A>G rs183575968 0.00001
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311 0.00001
NM_002890.3(RASA1):c.*733ATT[1] rs374889193
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568

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