ClinVar Miner

List of variants in gene SAMD9L reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.1081G>A (p.Val361Ile) rs140764553 0.00009
NM_152703.5(SAMD9L):c.2065C>T (p.Arg689Ter) rs369074740 0.00004
NM_152703.5(SAMD9L):c.3269G>A (p.Arg1090Lys) rs753749828 0.00003
NM_152703.5(SAMD9L):c.100G>A (p.Gly34Arg) rs139244356 0.00002
NM_152703.5(SAMD9L):c.1304dup (p.Leu435fs)
NM_152703.5(SAMD9L):c.2000C>T (p.Thr667Ile) rs2116491763
NM_152703.5(SAMD9L):c.3352T>C (p.Tyr1118His)
NM_152703.5(SAMD9L):c.3568G>T (p.Asp1190Tyr)
NM_152703.5(SAMD9L):c.3700G>A (p.Gly1234Arg)
NM_152703.5(SAMD9L):c.4616G>A (p.Gly1539Glu)
NM_152703.5(SAMD9L):c.694del (p.Arg232fs)

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