ClinVar Miner

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

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=) rs142642466 0.00478
NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=) rs79858266 0.00285
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_152703.5(SAMD9L):c.3028C>G (p.Gln1010Glu) rs117342581 0.00218
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=) rs149908158 0.00205
NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=) rs143928644 0.00145
NM_152703.5(SAMD9L):c.1995A>C (p.Thr665=) rs142212031 0.00053
NM_152703.5(SAMD9L):c.4462G>A (p.Val1488Ile) rs139478067 0.00051
NM_152703.5(SAMD9L):c.1081G>A (p.Val361Ile) rs140764553 0.00009
NM_152703.5(SAMD9L):c.4368T>A (p.Asn1456Lys) rs144026608 0.00007
NM_152703.5(SAMD9L):c.2065C>T (p.Arg689Ter) rs369074740 0.00004
NM_152703.5(SAMD9L):c.695G>A (p.Arg232His) rs574472008 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.3198C>T (p.Asp1066=) rs747147959 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.2608G>A (p.Gly870Ser)
NM_152703.5(SAMD9L):c.3352T>C (p.Tyr1118His)
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.3568G>T (p.Asp1190Tyr)
NM_152703.5(SAMD9L):c.3700G>A (p.Gly1234Arg)
NM_152703.5(SAMD9L):c.3891T>C (p.Ser1297=)
NM_152703.5(SAMD9L):c.4616G>A (p.Gly1539Glu)
NM_152703.5(SAMD9L):c.4629A>G (p.Lys1543=)
NM_152703.5(SAMD9L):c.658G>A (p.Glu220Lys) rs1562795586
NM_152703.5(SAMD9L):c.694del (p.Arg232fs)

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