ClinVar Miner

List of variants reported as 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: 72
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1
GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1
GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1
GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1
GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1
GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
GRCh37/hg19 17q12(chr17:34752221-36105007)x3
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1
GRCh37/hg19 22p13(chr22:135350-150557)x1
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter)
NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001134673.4(NFIA):c.243dup (p.Asp82fs) rs1646257371
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001372044.2(SHANK3):c.3857_3858insG (p.Val1287fs) rs2083287837
NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr) rs373588048
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_022455.5(NSD1):c.3796+1_3796+6del
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter) rs1001153999
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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