ClinVar Miner

List of variants reported as benign for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139
NM_001271938.2(MEGF8):c.352-4G>A rs143955737
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896

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