ClinVar Miner

List of variants in gene SBF2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030962.4(SBF2):c.1341C>G (p.Asn447Lys) rs764407015 0.00001
NM_030962.4(SBF2):c.1770T>C (p.Asp590=) rs149269991 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.1103A>G (p.Gln368Arg) rs1947510624
NM_030962.4(SBF2):c.1159T>C (p.Phe387Leu) rs1247599264
NM_030962.4(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.4(SBF2):c.211A>G (p.Thr71Ala) rs1590822270
NM_030962.4(SBF2):c.3979-5C>T
NM_030962.4(SBF2):c.525T>C (p.Ser175=) rs2134627335
NM_030962.4(SBF2):c.619+11570G>C
NM_030962.4(SBF2):c.827T>C (p.Val276Ala) rs778206706

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