ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2A

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.88816
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63395
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00090
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) rs376308638 0.00007
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu) rs184421010 0.00005
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser) rs758853965 0.00002
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro) rs2053450384
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) rs797046055
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419
NM_207346.3(TSEN54):c.167G>A (p.Arg56His) rs1281448557
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly) rs1214796361
NM_207346.3(TSEN54):c.624-10C>G rs368876457
NM_207346.3(TSEN54):c.823del (p.Val275fs) rs797046057
TSEN54:c.[277T>C;919G>T]

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