ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (409):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_003184.4(TAF2):c.3471G>A (p.Lys1157=) rs61753747 0.01612
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile) rs775272837 0.00004
NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr) rs765632713 0.00002
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) rs1272691121 0.00001
NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser) rs777670369 0.00001
NM_001102401.4(TTI2):c.-100+1G>A
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003076.5(SMARCD1):c.336G>T (p.Gln112His)
NM_004187.5(KDM5C):c.2209C>G (p.Leu737Val)
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg) rs1253991330
NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) rs2150855509
NM_013275.6(ANKRD11):c.1400T>A (p.Val467Asp)
NM_015100.4(POGZ):c.118A>G (p.Thr40Ala) rs2102370481
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter) rs2127760440
NM_020314.7(VPS35L):c.1554G>A (p.Thr518=)
NM_024027.5(COLEC11):c.82_94del (p.Ala28fs)
NM_024757.5(EHMT1):c.3725_3726del (p.Tyr1242fs)
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_170606.3(KMT2C):c.5404C>T (p.Pro1802Ser) rs1425340331
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896

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