ClinVar Miner

List of variants studied for chromosomal disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.3384dup
NM_001378120.1(MBD5):c.1119del (p.Val374fs) rs1680695228
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
NM_016628.5(WAC):c.1788del (p.His597fs)
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup) rs1566784117
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)

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