ClinVar Miner

List of variants studied for macrocephaly, dysmorphic facies, and psychomotor retardation

Included ClinVar conditions (1):
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.3155-36G>A rs9920746 0.99401
NM_003922.4(HERC1):c.12879A>T (p.Ile4293=) rs10851731 0.83149
NM_003922.4(HERC1):c.9223+19T>C rs2272209 0.83099
NM_003922.4(HERC1):c.9093G>A (p.Pro3031=) rs2228511 0.83085
NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala) rs2255243 0.83065
NM_003922.4(HERC1):c.5675-7A>G rs11630720 0.52041
NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val) rs2228510 0.48869
NM_003922.4(HERC1):c.11739C>G (p.Leu3913=) rs2228517 0.44575
NM_003922.4(HERC1):c.11433+7T>C rs10519223 0.44503
NM_003922.4(HERC1):c.3743-8A>G rs7176133 0.27240
NM_003922.4(HERC1):c.11332-15T>C rs78341289 0.01147
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_003922.4(HERC1):c.10547-7C>T rs192840076 0.00205
NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg) rs185430973 0.00097
NM_003922.4(HERC1):c.12967-4C>G rs374953824 0.00096
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=) rs182614197 0.00081
NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile) rs200243610 0.00051
NM_003922.4(HERC1):c.7615G>A (p.Ala2539Thr) rs200745033 0.00023
NM_003922.4(HERC1):c.577A>G (p.Ile193Val) rs768690717 0.00019
NM_003922.4(HERC1):c.3021+6C>T rs368315540 0.00006
NM_003922.4(HERC1):c.-26-25134A>G rs964673768 0.00005
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg) rs200023211 0.00004
NM_003922.4(HERC1):c.8617C>T (p.Arg2873Cys) rs751039538 0.00003
NM_003922.4(HERC1):c.13892G>A (p.Ser4631Asn) rs748563478 0.00002
NM_003922.4(HERC1):c.3574T>C (p.Cys1192Arg) rs376280658 0.00002
NM_003922.4(HERC1):c.10739G>A (p.Arg3580Gln) rs747862975 0.00001
NM_003922.4(HERC1):c.11078C>T (p.Thr3693Ile) rs755353533 0.00001
NM_003922.4(HERC1):c.11230C>T (p.Arg3744Trp) rs529584007 0.00001
NM_003922.4(HERC1):c.12302G>A (p.Gly4101Asp) rs780457593 0.00001
NM_003922.4(HERC1):c.1853A>C (p.Lys618Thr) rs200768642 0.00001
NM_003922.4(HERC1):c.2319C>T (p.Asn773=) rs901441145 0.00001
NM_003922.4(HERC1):c.3635A>T (p.Tyr1212Phe) rs1441475684 0.00001
NM_003922.4(HERC1):c.6109C>G (p.Pro2037Ala) rs375968062 0.00001
NM_003922.4(HERC1):c.9900T>A (p.Asn3300Lys) rs781291104 0.00001
NM_003922.4(HERC1):c.10315A>G (p.Lys3439Glu)
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)
NM_003922.4(HERC1):c.11160G>A (p.Trp3720Ter)
NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp) rs2229749
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile) rs1025829736
NM_003922.4(HERC1):c.11428T>G (p.Ser3810Ala) rs1323948806
NM_003922.4(HERC1):c.12394C>T (p.Gln4132Ter)
NM_003922.4(HERC1):c.12574G>A (p.Ala4192Thr)
NM_003922.4(HERC1):c.12823C>T (p.Arg4275Cys)
NM_003922.4(HERC1):c.13153del (p.Gln4385fs)
NM_003922.4(HERC1):c.13559G>A (p.Gly4520Glu) rs769677823
NM_003922.4(HERC1):c.13693C>T (p.Leu4565Phe) rs2067832178
NM_003922.4(HERC1):c.13815G>A (p.Trp4605Ter)
NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro) rs757446033
NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter) rs879253786
NM_003922.4(HERC1):c.28C>G (p.Leu10Val)
NM_003922.4(HERC1):c.344A>T (p.Tyr115Phe)
NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)
NM_003922.4(HERC1):c.4189C>T (p.Arg1397Cys)
NM_003922.4(HERC1):c.4643T>C (p.Met1548Thr)
NM_003922.4(HERC1):c.4847T>G (p.Met1616Arg) rs2072566970
NM_003922.4(HERC1):c.4906-2A>C rs797045141
NM_003922.4(HERC1):c.4933C>T (p.Leu1645Phe)
NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)
NM_003922.4(HERC1):c.5944G>A (p.Glu1982Lys) rs2071991919
NM_003922.4(HERC1):c.6140A>G (p.Asn2047Ser)
NM_003922.4(HERC1):c.6314C>G (p.Thr2105Ser)
NM_003922.4(HERC1):c.6949C>A (p.Leu2317Ile) rs746098639
NM_003922.4(HERC1):c.703C>T (p.Pro235Ser)
NM_003922.4(HERC1):c.7088C>T (p.Ser2363Leu) rs2071127185
NM_003922.4(HERC1):c.8504del (p.Gly2835fs)
NM_003922.4(HERC1):c.8680+1G>T
NM_003922.4(HERC1):c.8932G>A (p.Val2978Met)
NM_003922.4(HERC1):c.9134C>T (p.Ala3045Val)
NM_003922.4(HERC1):c.9748C>T (p.Arg3250Ter) rs753780877
NM_178040.4(ERC1):c.3037dup (p.Leu1013fs) rs1592108170

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