ClinVar Miner

List of variants reported as likely pathogenic for chromosomal disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter) rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs) rs2100520890
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) rs1942462618
NM_006940.6(SOX5):c.1789A>G (p.Met597Val) rs1940534444
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs) rs2132826154
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436

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