ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Pediatrics, Sichuan Provincial Hospital For Women And Children

Included ClinVar conditions (870):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.238C>A (p.His80Asn) rs199863486 0.00014
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)
NM_000208.4(INSR):c.1610+1G>A
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)
NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
NM_005629.4(SLC6A8):c.230G>A (p.Arg77His)
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys) rs2134048726
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
NM_030632.3(ASXL3):c.3076A>T (p.Lys1026Ter)

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