ClinVar Miner

List of variants studied for congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Included ClinVar conditions (2):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001940.4(ATN1):c.1467G>A (p.Gln489=) rs782253884 0.01283
NM_001940.4(ATN1):c.706A>C (p.Lys236Gln) rs200232074 0.00395
NM_001940.4(ATN1):c.2066C>T (p.Ser689Leu) rs781916549 0.00002
NM_001940.4(ATN1):c.2611A>G (p.Thr871Ala) rs781891087 0.00002
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_001940.4(ATN1):c.1464GCA[21] (p.Gln497_Gln502dup) rs60216939
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_001940.4(ATN1):c.1961C>T (p.Pro654Leu)
NM_001940.4(ATN1):c.3155A>C (p.His1052Pro) rs2138219892
NM_001940.4(ATN1):c.3160C>A (p.His1054Asn) rs1555144357
NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del) rs2138219913
NM_001940.4(ATN1):c.3167A>C (p.His1056Pro) rs967375653
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr) rs1555144358
NM_001940.4(ATN1):c.3176C>T (p.Ser1059Leu) rs2138219948
NM_001940.4(ATN1):c.3177_3178insAACCTG (p.Ser1059_His1060insAsnLeu) rs1064795494
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1]) rs2138219961
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_001940.4(ATN1):c.3185A>G (p.His1062Arg) rs1565569158
NM_001940.4(ATN1):c.3429_3437delinsT (p.Met1143fs)

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